ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)

dbSNP: rs2056510928
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216392 SCV001388188 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-04-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1573 of the CACNA1A protein (p.Met1573Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is not present in population databases (ExAC no frequency).
GeneDx RCV001586058 SCV001819113 uncertain significance not provided 2019-07-31 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Mendelics RCV002249808 SCV002516244 likely pathogenic Episodic ataxia type 2 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001586058 SCV004137996 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2, PP3

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