ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=)

dbSNP: rs558452873
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604417 SCV000732084 likely benign not specified 2017-01-18 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.
Color Diagnostics, LLC DBA Color Health RCV001841782 SCV001346451 likely benign Cardiac arrhythmia 2019-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427756 SCV001630441 likely benign Long QT syndrome 2023-07-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001427756 SCV004836462 likely benign Long QT syndrome 2023-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629258 SCV005126901 uncertain significance Cardiovascular phenotype 2024-06-04 criteria provided, single submitter clinical testing The c.1596G>T variant (also known as p.A532A), located in coding exon 13 of the KCNQ1 gene, results from a G to T substitution at nucleotide position 1596. This nucleotide substitution does not change the alanine at codon 532. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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