ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)

dbSNP: rs866974416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596261 SCV000701915 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854007 SCV002116385 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 497422). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 2103 of the CACNA1A protein (p.Arg2103Lys).

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