ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)

gnomAD frequency: 0.00002  dbSNP: rs1189054127
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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 RCV001200624 SCV001371632 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
Invitae RCV003770232 SCV004573344 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-05-20 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 expected to disrupt CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 932696). This missense change has been observed in individual(s) with developmental disorders (PMID: 28135719). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 481 of the CACNA1A protein (p.Arg481Cys).

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