ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)

gnomAD frequency: 0.00003  dbSNP: rs148566141
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Total submissions: 5
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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 RCV000605366 SCV000711084 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.Ser225Ser in exon 04 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (13/11492) of Latino chromosomes including one homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148566141).
GeneDx RCV001696966 SCV000721313 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Invitae RCV000863027 SCV001003618 benign Long QT syndrome 2024-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841491 SCV001346727 likely benign Cardiac arrhythmia 2019-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368032 SCV002663645 likely benign Cardiovascular phenotype 2019-11-20 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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