Submissions for variant NM_000249.4(MLH1):c.552A>T (p.Ser184=)

gnomAD frequency: 0.00006  dbSNP: rs35225190

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205167	SCV000260253	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001284648	SCV000523785	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571731	SCV000662023	likely benign	Hereditary cancer-predisposing syndrome	2014-11-18	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000445067	SCV000696171	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000571731	SCV000911475	likely benign	Hereditary cancer-predisposing syndrome	2017-11-01	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284648	SCV001470539	likely benign	not provided	2019-12-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000571731	SCV002528751	uncertain significance	Hereditary cancer-predisposing syndrome	2021-07-18	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003997605	SCV004835299	likely benign	Lynch syndrome	2023-12-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246790	SCV005897874	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2024-11-19	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences	RCV003897445	SCV004714092	likely benign	MLH1-related disorder	2023-02-13	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).