ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2668A>G (p.Met890Val)

gnomAD frequency: 0.00001  dbSNP: rs970455680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369925 SCV001566383 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-08-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1060486). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 890 of the MLH3 protein (p.Met890Val).
Ambry Genetics RCV004037452 SCV002739516 uncertain significance not specified 2024-04-11 criteria provided, single submitter clinical testing The p.M890V variant (also known as c.2668A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 2668. The methionine at codon 890 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004037452 SCV005090112 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005892 SCV005635778 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-05 criteria provided, single submitter clinical testing

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