ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1065C>T (p.Pro355=)

gnomAD frequency: 0.00001  dbSNP: rs1553650588
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527105 SCV000625038 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009823 SCV001169937 likely benign Hereditary cancer-predisposing syndrome 2018-11-20 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 RCV001009823 SCV002051934 likely benign Hereditary cancer-predisposing syndrome 2021-03-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003708 SCV004840947 likely benign Lynch syndrome 2023-05-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248109 SCV005895964 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.

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