ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1493C>T (p.Ser498Leu)

gnomAD frequency: 0.00005  dbSNP: rs145163163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364617 SCV001560775 uncertain significance Atrial fibrillation, familial, 7 2023-03-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1055873). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNA5 protein function. This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (rs145163163, gnomAD 0.008%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 498 of the KCNA5 protein (p.Ser498Leu).
GeneDx RCV002473281 SCV002770140 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Preventiongenetics, part of Exact Sciences RCV003416267 SCV004106585 uncertain significance KCNA5-related condition 2023-04-19 criteria provided, single submitter clinical testing The KCNA5 c.1493C>T variant is predicted to result in the amino acid substitution p.Ser498Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-5154806-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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