ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1561C>T (p.Gln521Ter)

dbSNP: rs765990397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463727 SCV000545792 uncertain significance Familial adenomatous polyposis 2 2021-06-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 406862). 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, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln549*) in the MUTYH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the MUTYH protein.
Ambry Genetics RCV002393102 SCV002704017 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-30 criteria provided, single submitter clinical testing The p.Q549* variant (also known as c.1645C>T), located in coding exon 16 of the MUTYH gene, results from a C to T substitution at nucleotide position 1645. This changes the amino acid from a glutamine to a stop codon within coding exon 16. This alteration occurs at the 3' terminus of theMUTYH gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last amino acid of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002393102 SCV004357787 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 16 of the MUTYH gene, creating a premature translation stop signal in the last coding exon. This mutant transcript is predicted to escape nonsense-mediated decay and be expressed as a truncated protein, deleting one amino acid. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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