Total submissions: 1
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. |