ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2915A>G (p.Lys972Arg)

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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 RCV002773513 SCV003594681 uncertain significance Inborn genetic diseases 2021-11-22 criteria provided, single submitter clinical testing The c.2918A>G (p.K973R) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a A to G substitution at nucleotide position 2918, causing the lysine (K) at amino acid position 973 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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