ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.467dup (p.Met156fs)

dbSNP: rs886041736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000357233 SCV000330475 pathogenic not provided 2017-12-29 criteria provided, single submitter clinical testing The c.467dupT pathogenic variant in the DCX gene causes a frameshift starting with codon Methionine 156, changes this amino acid to a Isoleucine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.M156IfsX9. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been previously reported to our knowledge, other frameshift variants have been reported in Human Gene Mutation Database in association with DCX-related disorders (Stenson et al., 2014).

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