ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs) (rs1556105540)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598560 SCV000710041 uncertain significance not provided 2018-01-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The c.5201delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.5201delG variant is not observed in large population cohorts (Lek et al., 2016). The c.5201delG variant causes a frameshift starting with codon Glycine 1734, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 106 of the new reading frame, denoted p.Gly1734AlafsX106. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, other frameshift variants have not been reported in the Human Gene Mutation Database in association with with CACNA1C-related disorders (Stenson et al., 2014). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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