ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002340340 SCV002639390 likely pathogenic Inborn genetic diseases 2018-02-16 criteria provided, single submitter clinical testing The p.G162V variant (also known as c.485G>T), located in coding exon 3 of the CACNA1A gene, results from a G to T substitution at nucleotide position 485. The glycine at codon 162 is replaced by valine, an amino acid with dissimilar properties. In one study, this alteration was detected in an individual with episodic ataxia type 2 (EA2); however, no specific phenotypic information was provided (Maksemous N et al. Mol Genet Genomic Med, 2016 Mar;4:211-22). In addition, this alteration is located in the hinge region of the transmembrane helix, which is an important position that has the potential to modify the motion of the channel protein (Ambry internal data; Wu J et al. Nature 2016 09;537(7619):191-196). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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