ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.98A>T (p.Glu33Val)

gnomAD frequency: 0.00020  dbSNP: rs71584818
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646133 SCV000767890 uncertain significance Atrial fibrillation, familial, 7 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 33 of the KCNA5 protein (p.Glu33Val). This variant is present in population databases (rs71584818, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of KCNA5-related conditions (PMID: 17266934, 26383259, 33789662). ClinVar contains an entry for this variant (Variation ID: 537313). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change does not substantially affect KCNA5 function (PMID: 17266934). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Laboratory Services, Illumina RCV000646133 SCV001270678 uncertain significance Atrial fibrillation, familial, 7 2017-06-19 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 RCV001785689 SCV002027930 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Reported in patients with cardiac arrest (Nielsen et al., 2007; Hertz et al., 2016) and in an infant with sudden unexplained death (SUD) in published literature (Schon et al., 2021); Functional characterization is inconclusive regarding the pathogenicity of this variant (Nielsen et al., 2007); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17266934, 26383259, 24068186, 33789662, 34104323)
Fulgent Genetics, Fulgent Genetics RCV000646133 SCV002793729 uncertain significance Atrial fibrillation, familial, 7 2021-09-13 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000646133 SCV004176394 uncertain significance Atrial fibrillation, familial, 7 2023-02-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001785689 SCV005191620 uncertain significance not provided criteria provided, single submitter not provided

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