ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3657_3669dup (p.Met1224fs)

dbSNP: rs770489662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519678 SCV000619428 likely pathogenic not provided 2017-07-26 criteria provided, single submitter clinical testing The c.3657_3669dup13 variant in the CNTNAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This duplication causes a frameshift starting with codon Methionine 1224, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Met1224AspfsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3657_3669dup13 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we interpret c.3657_3669dup13 as a likely pathogenic variant.

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