ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.778C>T (p.Gln260Ter) (rs773087549)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235928 SCV000293892 likely pathogenic not provided 2016-02-01 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.778C>T at the cDNA level and p.Gln260Ter (Q260X) 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 either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Invitae RCV001222430 SCV001394528 pathogenic MYH-associated polyposis 2019-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln260*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773087549, ExAC 0.006%). This variant has been observed in individual(s) with colorectal polyposis (PMID: 29330641). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 246369). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.

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