ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.778_782delinsGGGA (p.Tyr260fs)

dbSNP: rs1554440668
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599576 SCV000710118 likely pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.778_782delTATGGinsGGGA variant in the CNTNAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.778_782delTATGGinsGGGA variant causes a frameshift starting with codon Tyrosine 260, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Tyr260GlyfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.778_782delTATGGinsGGGA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.778_782delTATGGinsGGGA as a likely pathogenic variant.

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