ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter)

dbSNP: rs2149151527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874411 SCV002131785 pathogenic Familial adenomatous polyposis 2 2023-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln209*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1368442). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002359317 SCV002655854 pathogenic Hereditary cancer-predisposing syndrome 2022-09-06 criteria provided, single submitter clinical testing The p.Q209* pathogenic mutation (also known as c.625C>T), located in coding exon 8 of the MUTYH gene, results from a C to T substitution at nucleotide position 625. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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