ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3002G>A (p.Arg1001His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002906536 SCV003664680 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.3005G>A (p.R1002H) 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 3005, causing the arginine (R) at amino acid position 1002 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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