ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) (rs775608046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000498969 SCV000579552 uncertain significance Brugada syndrome 2017-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763731 SCV000894615 uncertain significance Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002570 SCV001160543 uncertain significance not specified 2019-05-23 criteria provided, single submitter clinical testing The KCNQ1 c.1885G>A; p.Gly629Ser variant (rs775608046) is reported in the literature in an individual affected with long QT syndrome, though it was not demonstrated to be disease-causing (Chae 2017). This variant is found in the general population with a low overall allele frequency of 0.005% (11/215064 alleles) in the Genome Aggregation Database. The glycine at codon 629 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Gly629Ser variant is uncertain at this time. References: Chae H et al. Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. Clin Chim Acta. 2017 Jan;464:128-135.
Color Health, Inc RCV001177410 SCV001341614 uncertain significance Arrhythmia 2021-01-20 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 629 of the KCNQ1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with long QT syndrome (PMID 27871843). This variant has been identified in 11/215064 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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