ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)

dbSNP: rs1553128813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669566 SCV000794331 likely pathogenic Familial adenomatous polyposis 2 2017-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669566 SCV000827218 pathogenic Familial adenomatous polyposis 2 2021-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 554017). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln187*) 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).
Ambry Genetics RCV002343420 SCV002647460 pathogenic Hereditary cancer-predisposing syndrome 2016-11-02 criteria provided, single submitter clinical testing The p.Q187* pathogenic mutation (also known as c.559C>T), located in coding exon 7 of the MUTYH gene, results from a C to T substitution at nucleotide position 559. This changes the amino acid from a glutamine to a stop codon within coding exon 7. 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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