ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.98A>T (p.Glu33Val) (rs71584818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646133 SCV000767890 uncertain significance Atrial fibrillation, familial, 7 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 33 of the KCNA5 protein (p.Glu33Val). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and valine. While this variant is present in population databases (rs71584818), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported observed in the literature in an individual that experienced a cardiac arrest and an individual that suffered a suspected sudden cardiac death (PMID: 17266934, 26383259). ClinVar contains an entry for this variant (Variation ID: 537313). Experimental studies that evaluated the electrophysiological properties of channels expressing this variant, showed that the channels behaved similarly to the wild-type (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 Clinical Services Laboratory,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.

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