ClinVar Genomic variation as it relates to human health
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
DSC2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1546 | 1681 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 29, 2020 | RCV002459892.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 29, 2022