ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)

dbSNP: rs1645561773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059766 SCV001224412 pathogenic Familial adenomatous polyposis 2 2022-03-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 854670). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser44Argfs*13) 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).
Color Diagnostics, LLC DBA Color Health RCV001185714 SCV001351967 pathogenic Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 2 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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). Based on the available evidence, this variant is classified as Pathogenic.
Baylor Genetics RCV001059766 SCV004199405 likely pathogenic Familial adenomatous polyposis 2 2023-01-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001059766 SCV004843440 pathogenic Familial adenomatous polyposis 2 2022-11-29 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 2 of the MUTYH gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. 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). Based on the available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV001185714 SCV005037979 pathogenic Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The c.132_135delTCAG pathogenic mutation, located in coding exon 2 of the MUTYH gene, results from a deletion of 4 nucleotides at nucleotide positions 132 to 135, causing a translational frameshift with a predicted alternate stop codon (p.S44Rfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.

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