ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1514+7G>T

gnomAD frequency: 0.00006  dbSNP: rs372593469
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Total submissions: 7
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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 RCV000218634 SCV000270310 likely benign not specified 2015-04-17 criteria provided, single submitter clinical testing c.1514+7G>T in intron 11 of KCNQ1: This variant is not expected to have clinica l significance because it is not located within the invariant positions of the s plice site consensus sequence, and computational tools do not predict an impact to splicing. It has been identified in 5/8652 of East Asian chromosomes and in 3 /16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs372593469).
GeneDx RCV000218634 SCV000714531 likely benign not specified 2017-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000866566 SCV001007679 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530296 SCV004712738 likely benign KCNQ1-related disorder 2020-08-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001310950 SCV001955435 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001310950 SCV001970805 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000218634 SCV001978899 benign not specified no assertion criteria provided clinical testing

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