ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.378dup (p.Leu127fs) (rs1320040467)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000524063 SCV000619848 likely pathogenic not provided 2017-08-07 criteria provided, single submitter clinical testing The c.378dupG variant causes a frameshift starting with codon Leucine 127, changes this amino acid to a Alanine residue and creates a premature Stop codon at position 132 of the new reading frame, denoted p.Leu127AlafsX132. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.378dupG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although the c.378dupG variant has not been reported previously to our knowledge, other loss-of-function variants in the CLCN1 gene have been reported in the Human Gene Mutation Database in association with CLCN1-related disorders (Stenson et al., 2014).

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