ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)

gnomAD frequency: 0.00001  dbSNP: rs267605294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692683 SCV000820519 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289290 SCV001477017 uncertain significance not provided 2020-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345374 SCV002647045 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing The p.R1780Q variant (also known as c.5339G>A), located in coding exon 35 of the CACNA1A gene, results from a G to A substitution at nucleotide position 5339. The arginine at codon 1780 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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 alteration remains unclear.

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