ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2887T>G (p.Cys963Gly)

dbSNP: rs1892263113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945244 SCV002183801 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 963 of the MLH3 protein (p.Cys963Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1414254). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004043425 SCV002750511 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing The p.C963G variant (also known as c.2887T>G), located in coding exon 1 of the MLH3 gene, results from a T to G substitution at nucleotide position 2887. The cysteine at codon 963 is replaced by glycine, an amino acid with highly dissimilar properties. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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