ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.994del (p.Arg332fs)

dbSNP: rs1057517456
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409401 SCV000487329 likely pathogenic Familial adenomatous polyposis 2 2015-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176292 SCV001340192 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 12 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. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000409401 SCV002234292 pathogenic Familial adenomatous polyposis 2 2023-03-02 criteria provided, single submitter clinical testing 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: 371676). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg360Glufs*48) 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).
Baylor Genetics RCV000409401 SCV004199442 likely pathogenic Familial adenomatous polyposis 2 2021-03-24 criteria provided, single submitter clinical testing

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