ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.432C>T (p.Gly144=)

dbSNP: rs1553642108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576045 SCV000673821 likely benign Hereditary cancer-predisposing syndrome 2016-01-07 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 RCV000576045 SCV000689884 likely benign Hereditary cancer-predisposing syndrome 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV001066875 SCV001231898 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-05-02 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 485794). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 144 of the MLH1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MLH1 protein.
All of Us Research Program, National Institutes of Health RCV004001115 SCV004835285 likely benign Lynch syndrome 2023-08-23 criteria provided, single submitter clinical testing

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