ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)

dbSNP: rs2101398407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763923 SCV002000141 pathogenic not provided 2024-09-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001868600 SCV002261517 pathogenic Developmental and epileptic encephalopathy, 32 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 309 of the KCNA2 protein (p.Arg309Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of KCNA2-related conditions (internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1313559). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt KCNA2 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252701 SCV002523331 uncertain significance See cases 2019-11-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP2, PP3

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