ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys)

dbSNP: rs1568423655
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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 RCV002318152 SCV000851350 uncertain significance Inborn genetic diseases 2016-11-23 criteria provided, single submitter clinical testing The p.E2049K variant (also known as c.6145G>A), located in coding exon 42 of the CACNA1A gene, results from a G to A substitution at nucleotide position 6145. The glutamic acid at codon 2049 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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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