ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.28A>G (p.Asn10Asp)

gnomAD frequency: 0.00011  dbSNP: rs894679405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820256 SCV000960962 uncertain significance Atrial fibrillation, familial, 7 2018-10-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with KCNA5-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces asparagine with aspartic acid at codon 10 of the KCNA5 protein (p.Asn10Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
Fulgent Genetics, Fulgent Genetics RCV000820256 SCV002777357 uncertain significance Atrial fibrillation, familial, 7 2021-08-25 criteria provided, single submitter clinical testing

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