ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3946-51C>T (rs202216172)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171615 SCV000050651 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171615 SCV000329181 uncertain significance not provided 2015-04-17 criteria provided, single submitter clinical testing The H1321Y variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The H1321Y variant was not observed in approximately 3,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H1321Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, H1321Y occurs in an alternate transcript of CACNA1C where no variants have been reported in the Human Gene Mutation Database to date (Stenson P et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.

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