ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003797133 SCV004586114 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-04-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1652 of the CACNA1A protein (p.Asn1652Asp).

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