ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)

gnomAD frequency: 0.00001  dbSNP: rs753798870
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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 RCV002313558 SCV000848641 uncertain significance Inborn genetic diseases 2016-12-15 criteria provided, single submitter clinical testing The p.R2240Q variant (also known as c.6719G>A), located in coding exon 46 of the CACNA1A gene, results from a G to A substitution at nucleotide position 6719. The arginine at codon 2240 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV001868349 SCV002205572 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004569408 SCV005051048 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing CACNA1A: PP3

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