ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
Germline
Classification
(12)
Conflicting classifications of pathogenicity
Uncertain significance(9); Benign(1); Likely benign(1)
Uncertain significance(9); Benign(1); Likely benign(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 | |||
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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV000057687.11 | |
Uncertain significance (2) |
|
May 29, 2024 | RCV000414067.13 | |
Uncertain significance (1) |
|
Mar 23, 2021 | RCV000620765.11 | |
Uncertain significance (1) |
|
Oct 31, 2018 | RCV000764971.10 | |
Uncertain significance (1) |
|
Nov 15, 2023 | RCV000812759.14 | |
Uncertain significance (1) |
|
May 16, 2017 | RCV001102704.12 | |
Uncertain significance (1) |
|
Apr 27, 2017 | RCV001107937.12 | |
Benign (1) |
|
Apr 27, 2017 | RCV001106436.12 | |
Uncertain significance (1) |
|
Apr 27, 2017 | RCV001107938.12 | |
Uncertain significance (1) |
|
Feb 11, 2020 | RCV001731350.12 | |
Likely benign (1) |
|
Sep 21, 2022 | RCV001841683.11 | |
Citations for germline classification of this variant
HelpText-mined citations for rs199472694 ...
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 13, 2024