ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) (rs749561588)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170782 SCV000223337 uncertain significance not provided 2012-08-07 criteria provided, single submitter clinical testing p.Thr568Met (ACG>ATG):c.1703 C>T in exon 13 of the CACNA1C gene (NM_000719.6). The Thr568Met variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr568Met results in a semi-conservative amino acid substitution of a polar Threonine residue with a non-polar Methionine residue at a position that is conserved across species. The NHLBI ESP Exome Variant Server reports Thr568Met 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 codons have been reported in association with LQTS, 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 Thr568Met is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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