ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)

dbSNP: rs1555743201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533076 SCV000656768 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-12-10 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1575 of the CACNA1A protein (p.Met1575Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC 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. 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: 476261).

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