ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)

gnomAD frequency: 0.00005  dbSNP: rs368183370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532320 SCV000656788 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315037 SCV000848940 uncertain significance Inborn genetic diseases 2018-11-29 criteria provided, single submitter clinical testing The p.V2128M variant (also known as c.6382G>A), located in coding exon 45 of the CACNA1A gene, results from a G to A substitution at nucleotide position 6382. The valine at codon 2128 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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