ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser)

gnomAD frequency: 0.00001  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
CeGaT Center for Human Genetics Tuebingen RCV000996770 SCV001151685 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001371768 SCV001568347 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 2253 of the CACNA1A protein (p.Gly2253Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 808461). 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 expected to disrupt CACNA1A protein function. 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.

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