ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr) (rs1555672376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523331 SCV000619762 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The F351Y variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F351Y 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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