ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)

gnomAD frequency: 0.00005  dbSNP: rs199473353
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631784 SCV000752875 benign Long QT syndrome 2025-01-12 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852955 SCV000995702 benign Cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811124 SCV002050064 likely benign not provided 2020-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388010 SCV002702344 likely benign Cardiovascular phenotype 2019-08-12 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.
GeneDx RCV001811124 SCV002818833 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23631430, 21907427, 30245029, 24710009, 28807990, 29309402, 33919104)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240352 SCV005886199 likely benign not specified 2025-02-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005240352 SCV006066249 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BS1;BP4
Roden Lab, Vanderbilt University Medical Center RCV004777778 SCV005393167 not provided Long QT syndrome 5 no assertion provided in vitro

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