ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)

gnomAD frequency: 0.00001  dbSNP: rs768386527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671051 SCV000795991 likely pathogenic Familial adenomatous polyposis 2 2017-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773209 SCV000906796 pathogenic Hereditary cancer-predisposing syndrome 2020-03-21 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the MUTYH gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1/251484 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of MUTYH function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV000773209 SCV001179261 pathogenic Hereditary cancer-predisposing syndrome 2023-10-24 criteria provided, single submitter clinical testing The p.Q29* pathogenic mutation (also known as c.85C>T), located in coding exon 2 of the MUTYH gene, results from a C to T substitution at nucleotide position 85. This changes the amino acid from a glutamine to a stop codon within coding exon 2. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000671051 SCV001406787 pathogenic Familial adenomatous polyposis 2 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln29*) 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 present in population databases (rs768386527, gnomAD 0.007%). 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: 555262). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.

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