ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys)

gnomAD frequency: 0.00014  dbSNP: rs760308715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839083 SCV002098984 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546731 SCV004267363 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 2320 of the CACNA1G protein (p.Gly2320Cys). 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 CACNA1G protein function. ClinVar contains an entry for this variant (Variation ID: 1342332). This missense change has been observed in individual(s) with clinical features of CACNA1G-related conditions (PMID: 34248568). This variant is present in population databases (rs760308715, gnomAD 0.03%).

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