Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209428 | SCV001380861 | uncertain significance | Familial adenomatous polyposis 2 | 2019-09-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.902_919dup, results in the insertion of 6 amino acid(s) to the MUTYH protein (p.Pro301_Cys306dup), but otherwise preserves the integrity of the reading frame. |
Ambry Genetics | RCV003294016 | SCV004008274 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing | The c.902_919dup18 variant (also known as p.P301_C306dup), located in coding exon 10 of the MUTYH gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 902 to 919. This results in the duplication of 6 extra residues (PVESLC) between codons 301 and 306. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |