ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) (rs777058699)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170807 SCV000223362 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing The Arg1347Gln variant in the CACNA1C gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Arg1347Gln results in a semi-conservative amino acid substitution of a positively charged Arginine residue with a neutral, polar Glutamine residue at a position that is highly conserved throughout evolution. In silico analysis predicts Arg1347Gln is damaging to the protein structure/function. Also, the Arg1347Gln 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. However, no mutations in nearby residues have been reported in association with arrhythmia, indicating this region of the protein may be tolerant of change. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine if Arg1347Gln in the CACNA1C gene is a disease-causing mutation or a benign polymorphism. The variant is found in BRUGADA,LQT panel(s).

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