ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)

gnomAD frequency: 0.00004  dbSNP: rs1262547488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220274 SCV001392254 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436848 SCV002744803 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.R894W variant (also known as c.2680C>T), located in coding exon 19 of the CACNA1A gene, results from a C to T substitution at nucleotide position 2680. The arginine at codon 894 is replaced by tryptophan, an amino acid with dissimilar 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 alteration remains unclear.

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