Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001009972 | SCV001170107 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-05 | criteria provided, single submitter | clinical testing | The p.Q379* pathogenic mutation (also known as c.1135C>T), located in coding exon 12 of the MUTYH gene, results from a C to T substitution at nucleotide position 1135. This changes the amino acid from a glutamine to a stop codon within coding exon 12. 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. |
| Invitae | RCV002549306 | SCV003321960 | pathogenic | Familial adenomatous polyposis 2 | 2022-02-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 818408). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (rs745910470, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln379*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |