ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1545G>A (p.Glu515=)

dbSNP: rs1449578463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563119 SCV000673833 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 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 RCV001392074 SCV001593707 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563119 SCV002528659 likely benign Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV005248329 SCV005898921 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-22 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 RCV005357706 SCV005916829 likely benign Muir-Torré syndrome 2023-09-26 criteria provided, single submitter clinical testing

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