ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)

dbSNP: rs754326939
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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 RCV001206934 SCV001378268 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436797 SCV002745502 uncertain significance Inborn genetic diseases 2017-12-15 criteria provided, single submitter clinical testing The p.R868P variant (also known as c.2603G>C), located in coding exon 19 of the CACNA1A gene, results from a G to C substitution at nucleotide position 2603. The arginine at codon 868 is replaced by proline, 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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