ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly)

dbSNP: rs1568528100
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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 RCV002318242 SCV000851527 uncertain significance Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing The p.A498G variant (also known as c.1493C>G), located in coding exon 11 of the CACNA1A gene, results from a C to G substitution at nucleotide position 1493. The alanine at codon 498 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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