ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.665C>T (p.Ala222Val)

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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 RCV002366890 SCV002666361 uncertain significance Inborn genetic diseases 2017-08-28 criteria provided, single submitter clinical testing The p.A222V variant (also known as c.665C>T), located in coding exon 5 of the CACNA1A gene, results from a C to T substitution at nucleotide position 665. The alanine at codon 222 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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