ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)

dbSNP: rs569971691
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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 RCV000825176 SCV000966449 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asp582Asp in exon 15 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.26% (43/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs569971691).
Invitae RCV000868615 SCV001009968 benign Long QT syndrome 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172044 SCV001334976 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842006 SCV001344257 benign Cardiac arrhythmia 2018-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001172044 SCV001780432 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16487223)
Ambry Genetics RCV002399833 SCV002710297 likely benign Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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