ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.453C>G (p.Tyr151Ter)

dbSNP: rs1645192561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183600 SCV001349392 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 7 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 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 RCV003462655 SCV004199413 likely pathogenic Familial adenomatous polyposis 2 2022-11-26 criteria provided, single submitter clinical testing

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