ClinVar Genomic variation as it relates to human health
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
Germline
Classification
(4)
Likely pathogenic
reviewed by expert panel
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 | |||
MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 9171 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 30, 2021 | RCV000219646.5 | |
Likely pathogenic (1) |
|
Sep 18, 2023 | RCV000485238.6 | |
Likely pathogenic (1) |
|
Jun 21, 2019 | RCV000680209.3 | |
Pathogenic (1) |
|
Aug 31, 2023 | RCV000793054.6 |
Citations for germline classification of this variant
HelpText-mined citations for rs876660095 ...
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 Feb 20, 2024