ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.757G>A (p.Val253Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004727210 SCV005329628 uncertain significance Spinocerebellar ataxia type 42 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.757G>A (p.Val253Met) in CACNA1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val253Met variant has allele frequency 0.002 % in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - Damaging, SIFT - Tolerated and Mutation Taster -Disease causing) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Val253Met in CACNA1G is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 253 is changed to a Met changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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