ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.537C>A (p.Thr179=)

dbSNP: rs1570417012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025019 SCV001187129 likely benign Hereditary cancer-predisposing syndrome 2018-12-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001501518 SCV001706332 likely benign Familial adenomatous polyposis 2 2023-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545018 SCV004773485 likely benign MUTYH-related disorder 2023-02-23 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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