ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2806C>A (p.Gln936Lys)

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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 RCV003220367 SCV003914148 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.2809C>A (p.Q937K) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a C to A substitution at nucleotide position 2809, causing the glutamine (Q) at amino acid position 937 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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