ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2695G>A (p.Gly899Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694253 SCV000822688 uncertain significance Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 899 of the CACNA1A protein (p.Gly899Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs751726770, ExAC 0.002%). This variant has not been reported in the literature in individuals with CACNA1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
GeneDx RCV000841214 SCV000983172 likely benign not provided 2018-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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