Variant detail

mut_id 214 · c.330+1G>A

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Evidence at a glance

4
Linked patients
4
Patient-variant records
5
Linked references
3
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point Splicing Pathogenic/Likely pathogenic
HGVS
c.330+1G>A
rsID
rs375415632
ClinVar ID
632036
GRCh38 coordinate
133424479
Location
intron 3
gnomAD AF
0.00000124
Domain
Not available
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Authors: Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA.
Source: PLoS One (2020)
Citation: PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637. eCollection 2020.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637
Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Regional UK TTP registry: correlation with laboratory ADAMTS 13 analysis and clinical features
Authors: Scully M, Yarranton H, Liesner R, Cavenagh J, Hunt B, Benjamin S, Bevan D, Mackie I, Machin S.
Source: Br J Haematol (2008)
Citation: Br J Haematol. 2008 Sep;142(5):819-26. doi: 10.1111/j.1365-2141.2008.07276.x. Epub 2008 Jul 8.
PubMed: 18637802 · DOI: 10.1111/j.1365-2141.2008.07276.x
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Authors: Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA
Source: PloS One (2020)
Citation: PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637
Caplacizumab in a Case of Very Late Diagnosis of Congenital Thrombotic Thrombocytopenic Purpura, 05 October 2025, PREPRINT (Version 1) available at Research Square
Authors: Elisa Quinti, Laura Fasano, Chiara Lucarelli et al.
Source: 2025
DOI: 10.21203/rs.3.rs-7435341/v1

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

Countries represented
China (2); Argentina (1); South Korea (1)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
female (3); male (1)
Pregnancy-related
no (4)
Triggers
none (3); infection (1)
Treatment
unknown (3); PI (1)
ADAMTS13 activity
n=3; median=5; range=3–5
Age of onset
n=4; median=1; range=1–24
Age of diagnosis
n=4; median=4; range=1–24
Platelet count
n=2; median=29; range=10–48

Variant fields

mut_syn_HGVS
c.330+1G>A
cdna_numb_HGVS
330
cdna_numb_legacy
330
nt_change
G>A
n_bp
1
nuc_numb
330
g_numb
g16
coordinate_GRCh38
133424479
gnomAD_AC
2
gnomAD_AN
1612710
gnomAD_AF
0.00000124
clinvar_id
632036
clinvar_classification
Pathogenic/Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
58, 71, 158, 304, 318, 332

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
255 214 76 304 cTTP compound_heterozygous China female <1 1 <5 unknown no none unknown
289 214 90 318 cTTP compound_heterozygous Argentina female 24 24 <5 48 no infection PI
309 214 76 58 cTTP compound_heterozygous China female <1 <1 unknown unknown no none unknown
310 214 262 158 cTTP compound_heterozygous South Korea male <1 7 <3 10 no none unknown