ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter)

dbSNP: rs144003099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318359 SCV000851777 pathogenic Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.Y1136* pathogenic mutation (also known as c.3408C>A), located in coding exon 21 of the CNTNAP2 gene, results from a C to A substitution at nucleotide position 3408. This changes the amino acid from a tyrosine to a stop codon within coding exon 21. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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