ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) (rs932830392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760568 SCV000890459 likely pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.1501C>T at the cDNA level and p.Gln501Ter (Q501X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through protein truncation. Even though this frameshift occurs near the end of the gene in the second to last exon, and nonsense-mediated decay is not expected to occur, it is significant since the last 49 amino acids are no longer translated. Furthermore, the truncation would disrupt the PCNA domain (Parker 2001, Ruggieri 2013). Although this variant has not, to our knowledge, been reported in the literature as a germline variant, it is considered likely pathogenic.
Color RCV000777365 SCV000913227 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing

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