Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485027 | SCV000571325 | likely pathogenic | not provided | 2016-08-15 | criteria provided, single submitter | clinical testing | This deletion of one nucleotide in MUTYH is denoted c.1321delG at the cDNA level and p.Glu441ArgfsX11 (E441RfsX11) at the protein level. The normal sequence, with the base that is deleted in braces, is TGGG[G]AGGT. The deletion causes a frameshift which changes a Glutamic Acid to an Arginine at codon 441, and creates a premature stop codon at position 11 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant. |
| Labcorp Genetics |
RCV000693940 | SCV000822363 | pathogenic | Familial adenomatous polyposis 2 | 2021-11-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 421975). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu441Argfs*11) 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). |
| Baylor Genetics | RCV000693940 | SCV004198975 | likely pathogenic | Familial adenomatous polyposis 2 | 2023-03-23 | criteria provided, single submitter | clinical testing |