ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.851del (p.Gln284fs)

dbSNP: rs796052388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187252 SCV000240834 pathogenic not provided 2012-12-11 criteria provided, single submitter clinical testing p.Gln284ArgfsX31 (Q284RfsX31) in exon 6 of the CNTNAP2 gene (NM_014141.4). The normal sequence with the base that is deleted in braces is CGCC{A}GGGG. The c.851delA mutation in the CNTNAP2 gene causes a frameshift starting with codon Glutamine 284, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Gln284ArgfsX31. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s).

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