ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)

dbSNP: rs759252101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091783 SCV001247993 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001367717 SCV001564077 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-08-20 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1A protein function. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 871687). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with alanine at codon 2089 of the CACNA1A protein (p.Gly2089Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine.

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