ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2645C>T (p.Pro882Leu)

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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 RCV004432166 SCV004916233 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.2648C>T (p.P883L) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a C to T substitution at nucleotide position 2648, causing the proline (P) at amino acid position 883 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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