ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)

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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 RCV003790302 SCV004579442 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-04-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs760366437, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 544 of the CACNA1A protein (p.Arg544Gln). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1A protein function.

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