ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.918T>C (p.Asn306=)

gnomAD frequency: 0.00001  dbSNP: rs587779054
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703581 SCV000517849 likely benign not provided 2021-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464713 SCV000556005 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575292 SCV000662061 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 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.
Color Diagnostics, LLC DBA Color Health RCV000575292 SCV000684882 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575292 SCV002528788 likely benign Hereditary cancer-predisposing syndrome 2021-11-06 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114545 SCV003800689 likely benign not specified 2023-01-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001703581 SCV004220905 likely benign not provided 2023-04-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246949 SCV005898482 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-21 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398520 SCV006055796 likely benign Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2024-08-28 criteria provided, single submitter clinical testing

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