ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) (rs777138966)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170803 SCV000223358 uncertain significance not provided 2013-10-10 criteria provided, single submitter clinical testing p.Val1292Leu (GTG>TTG): c.3874 G>T in exon 30 of the CACNA1C gene (NM_000719.6). The Val1292Leu variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Val1292Leu results in a conservative amino acid substitution of nonpolar amino acid with another at a position that is conserved across species. The NHLBI ESP Exome Variant Server reports Val1292Leu was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby residues have been reported in association with arrhythmia, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Val1292Leu is a disease-causing mutation or a rare benign variant. The variant is found in BRUGADA panel(s).

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