ClinVar Genomic variation as it relates to human health
NM_006005.3(WFS1):c.1217C>A (p.Ala406Asp)
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1752 | 1853 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
WFS1-related disorder
|
Likely pathogenic (1) |
|
Nov 6, 2023 | RCV004544196.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024