ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)

gnomAD frequency: 0.00001  dbSNP: rs1196111017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318257 SCV000851549 uncertain significance Inborn genetic diseases 2017-02-20 criteria provided, single submitter clinical testing The p.K762E variant (also known as c.2284A>G), located in coding exon 19 of the CACNA1A gene, results from an A to G substitution at nucleotide position 2284. The lysine at codon 762 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001344187 SCV001538223 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 762 of the CACNA1A protein (p.Lys762Glu). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 590075). 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 disruptive. 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.
GeneDx RCV001546058 SCV001765507 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing Not observed at a significant frequency 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

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