ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser)

gnomAD frequency: 0.00001  dbSNP: rs2057722310
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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 RCV001343554 SCV001537542 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-10-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with serine at codon 992 of the CACNA1A protein (p.Gly992Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.

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