Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022500 | SCV001184247 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-07-22 | criteria provided, single submitter | clinical testing | The p.Y148* pathogenic mutation (also known as c.444C>G), located in coding exon 5 of the MUTYH gene, results from a C to G substitution at nucleotide position 444. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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. |