ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)

dbSNP: rs1433873178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319646 SCV001510403 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-03-09 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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). This sequence change replaces glycine with cysteine at codon 2253 of the CACNA1A protein (p.Gly2253Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine.
Baylor Genetics RCV001328548 SCV001519693 uncertain significance Developmental and epileptic encephalopathy, 42 2019-02-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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