ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)

gnomAD frequency: 0.00001  dbSNP: rs753077104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316705 SCV000850350 uncertain significance Inborn genetic diseases 2016-12-19 criteria provided, single submitter clinical testing The p.G1084S variant (also known as c.3250G>A), located in coding exon 20 of the CACNA1A gene, results from a G to A substitution at nucleotide position 3250. The glycine at codon 1084 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862067 SCV002279365 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-03-22 criteria provided, single submitter clinical testing

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