ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs35225190
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205167 SCV000260253 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-27 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
PreventionGenetics, part of Exact Sciences RCV003897445 SCV004714092 likely benign MLH1-related disorder 2023-02-13 criteria provided, single submitter 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).
All of Us Research Program, National Institutes of Health RCV003997605 SCV004835299 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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