ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) (rs786205759)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170799 SCV000223354 uncertain significance not provided 2013-07-26 criteria provided, single submitter clinical testing p.Lys1211Glu (AAA>GAA): c.3631 A>G in exon 28 of the CACNA1C gene (NM_000719.6). The Lys1211Glu variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Lys1211Glu results in a non-conservative amino acid substitution of positively charged Lysine with a negatively charged Glutamic acid at a position that is conserved across species. In silico analysis predicts Lys1211Glu is damaging to the protein structure/function. The Lys1211Glu variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby residues have been reported in association with LQTS or Timothy syndrome. With the clinical and molecular information available at this time, we cannot definitively determine if Lys1211Glu is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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