ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) (rs730880275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255180 SCV000322238 pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing The c.3709delG pathogenic variant in the CNTNAP2 gene has been reported previously as a founder mutation in the Amish population, where homozygous individuals manifest cortical dysplasia and early-onset intractable focal epilepsy (Strauss et al., 2006). The c.3709delG variant causes a frameshift starting with codon Aspartic acid 1237, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Asp1237IlefsX17. This variant is predicted to cause loss of normal protein function through protein truncation. The c.3709delG variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3709delG as a pathogenic variant.
OMIM RCV000005825 SCV000026007 pathogenic Pitt-Hopkins-like syndrome 1 2006-03-30 no assertion criteria provided literature only

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