ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002368640 SCV002660806 uncertain significance Inborn genetic diseases 2020-03-24 criteria provided, single submitter clinical testing The p.R2090W variant (also known as c.6268C>T), located in coding exon 43 of the CACNA1A gene, results from a C to T substitution at nucleotide position 6268. The arginine at codon 2090 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098184 SCV003024369 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408248 SCV004137984 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing CACNA1A: PP2

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