ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) (rs786205767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000723991 SCV000223377 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing p.Arg81Gln (CGG>CAG): c.242 G>A in exon 2 of the CACNA1C gene (NM_000719.6). The Arg81Gln variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg81Gln results in a non-conservative amino acid substitution of a positively charged Arginine with a neutral, polar Glutamine at a position that is conserved across species. In silico analysis predicts Arg81Gln is probably damaging to the protein structure/function. The Arg81Gln 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 mutation 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 Arg81Gln is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723991 SCV000227168 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing

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