ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)

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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 RCV002333469 SCV002627596 likely pathogenic Inborn genetic diseases 2019-09-04 criteria provided, single submitter clinical testing The p.V1456L variant (also known as c.4366G>C), located in coding exon 27 of the CACNA1A gene, results from a G to C substitution at nucleotide position 4366. The valine at codon 1456 is replaced by leucine, an amino acid with highly similar properties. This variant (reported as V1457L) was detected in 8 affected individuals form one familial hemiplegic migraine family and was absent in 4 unaffected family members (Carrera P et al. Neurology, 1999 Jul;53:26-33). This amino acid position is highly 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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