ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)

gnomAD frequency: 0.00001  dbSNP: rs962199389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756286 SCV000884052 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing The c.1851C>T; p.Leu617Leu variant (rs962199389) does not alter the amino acid sequence of the KCNQ1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiac disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.003% (identified on 1 out of 30,900 chromosomes). Based on the available information, the c.1851C>T variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001466223 SCV001670223 likely benign Long QT syndrome 2021-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406677 SCV002711520 likely benign Cardiovascular phenotype 2020-11-09 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.
Color Diagnostics, LLC DBA Color Health RCV003591777 SCV004358444 likely benign Cardiac arrhythmia 2021-09-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001466223 SCV004836489 likely benign Long QT syndrome 2023-11-30 criteria provided, single submitter clinical testing

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