Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207104 | SCV001378443 | likely pathogenic | Familial adenomatous polyposis 2 | 2019-06-17 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupt the p.Tyr179 amino acid residue in MUTYH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12606733, 16557584, 17489848, 19793053, 21063410, 24444654). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is an in-frame deletion of the genomic region encompassing exon 7 (c.504+1_577-25del) of the MUTYH gene. It preserves the integrity of the reading frame. |