ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)

gnomAD frequency: 0.00001  dbSNP: rs199630316
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214712 SCV000270306 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing p.Ser349Ser in exon 8 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/66514 of Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs199630316).
Color Diagnostics, LLC DBA Color Health RCV001842968 SCV001358225 likely benign Cardiac arrhythmia 2018-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532624 SCV001748269 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853414 SCV002304969 likely benign Long QT syndrome 2024-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399783 SCV002708336 likely benign Cardiovascular phenotype 2020-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001853414 SCV004838823 likely benign Long QT syndrome 2023-12-13 criteria provided, single submitter clinical testing

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