ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs) (rs1556099231)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494367 SCV000582517 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing The c.5147_5186dup40 variant in the CACNA1C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5147_5186dup40 variant causes a frameshift starting with codon Histidine 1729, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.His1729GlnfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5147_5186dup40 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.5147_5186dup40 as a variant of uncertain significance.

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