ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.903G>C (p.Val301=)

gnomAD frequency: 0.00001  dbSNP: rs749048388
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214965 SCV000275854 likely benign Hereditary cancer-predisposing syndrome 2015-05-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001722190 SCV000529027 likely benign not provided 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986303 SCV000557590 likely benign Familial adenomatous polyposis 2 2023-12-14 criteria provided, single submitter clinical testing
Mendelics RCV000986303 SCV001135255 likely benign Familial adenomatous polyposis 2 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214965 SCV001352425 likely benign Hereditary cancer-predisposing syndrome 2018-10-09 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320611 SCV004024968 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000986303 SCV004835181 likely benign Familial adenomatous polyposis 2 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532789 SCV004715296 likely benign MUTYH-related disorder 2024-02-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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