ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1977_1989del (p.Val660fs)

dbSNP: rs1064796221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486517 SCV000572734 pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing The novel c.1977_1989del13 pathogenic variant in the CNTNAP2 gene causes a frameshift starting with codon Valine 660, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Val660PhefsX9. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the c.1977_1989del13 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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