ClinVar Genomic variation as it relates to human health
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
DSG2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1114 | 1921 | |
DSG2-AS1 | - | - | - | GRCh38 | - | 698 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 6, 2022 | RCV002434966.2 | |
Pathogenic (1) |
|
Sep 27, 2022 | RCV003101965.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024