ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)
Germline
Classification
(7)
Uncertain significance
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 14, 2020 | RCV001250549.9 | |
Uncertain significance (1) |
|
Mar 9, 2022 | RCV000457132.15 | |
Uncertain significance (1) |
|
Jan 4, 2021 | RCV001841346.10 | |
Uncertain significance (1) |
|
Oct 13, 2021 | RCV002502613.8 | |
Uncertain significance (1) |
|
Aug 28, 2022 | RCV003227751.8 | |
Uncertain significance (1) |
|
Aug 30, 2023 | RCV003372716.2 | |
Uncertain significance (1) |
|
Apr 20, 2023 | RCV003736774.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs199472693 ...
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