ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.165A>T (p.Ser55=)

dbSNP: rs786203971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167506 SCV000218364 likely benign Hereditary cancer-predisposing syndrome 2014-12-31 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 RCV000640408 SCV000761999 likely benign Familial adenomatous polyposis 2 2024-04-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000167506 SCV001357389 likely benign Hereditary cancer-predisposing syndrome 2019-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001753575 SCV001996172 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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