ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1420C>A (p.Arg474=)

dbSNP: rs147939838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630321 SCV000751277 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011502 SCV001171829 likely benign Hereditary cancer-predisposing syndrome 2018-02-19 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.
GeneDx RCV002264965 SCV002546594 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV001011502 SCV004359234 likely benign Hereditary cancer-predisposing syndrome 2020-03-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002801 SCV004841004 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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