ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)

gnomAD frequency: 0.00002  dbSNP: rs766012999
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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 RCV001049020 SCV001213053 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1921 of the CACNA1A protein (p.Ala1921Thr). This variant is present in population databases (rs766012999, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 845862). 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 with a negative predictive value of 95%. 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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