ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)

gnomAD frequency: 0.00016  dbSNP: rs201328038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534556 SCV000646981 likely benign Atrial fibrillation, familial, 7 2023-12-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000534556 SCV001270767 uncertain significance Atrial fibrillation, familial, 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV002464254 SCV002759141 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Reported in a Scandinavian patient with adult-onset paroxysmal atrial fibrillation (Christophersen et al., 2013); Subcellular localization studies demonstrated no significant differences between G558R and the wildtype (Christophersen et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23264583)

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