ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)

gnomAD frequency: 0.00001  dbSNP: rs1290079536
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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 RCV001373706 SCV001570436 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601485 SCV005099565 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.2699G>A (p.R900H) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 2699, causing the arginine (R) at amino acid position 900 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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