ClinVar Genomic variation as it relates to human health
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
Germline
Classification
Conflicting classifications of pathogenicity
Pathogenic(1); Likely pathogenic(4); Uncertain significance(1)
Pathogenic(1); Likely pathogenic(4); Uncertain significance(1)
6 out of 7 submissions contributed to this classification
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 |
1240 | 2142 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (4) |
|
Apr 29, 2024 | RCV000018304.48 | |
Likely pathogenic (1) |
|
Jun 3, 2024 | RCV000181248.12 | |
Likely pathogenic (1) |
|
Nov 25, 2021 | RCV002496397.8 | |
Uncertain significance (1) |
|
Dec 18, 2023 | RCV003996106.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs121913007 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jun 08, 2025
NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.