ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2320G>A (p.Ala774Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283260 SCV002571522 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002283260 SCV002947886 uncertain significance not provided 2022-06-01 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 774 of the CACNA1G protein (p.Ala774Thr). This variant is present in population databases (rs562004080, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CACNA1G-related conditions. 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 CACNA1G protein function. 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003458243 SCV004185527 uncertain significance Spinocerebellar ataxia type 42 2023-12-21 criteria provided, single submitter clinical testing

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