ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
Germline
Classification
(5)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1720 | 2663 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 22, 2018 | RCV001841903.11 | |
Likely benign (1) |
|
Aug 13, 2021 | RCV002487582.8 | |
Likely benign (1) |
|
Dec 29, 2018 | RCV002386340.9 | |
Likely benign (2) |
|
Dec 13, 2023 | RCV003532256.4 |
Citations for germline classification of this variant
HelpText-mined citations for rs200418488 ...
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 Oct 27, 2024