ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3164T>G (p.Met1055Arg)

dbSNP: rs1026561200
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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 RCV001965292 SCV002216396 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-11-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1439424). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1055 of the MLH3 protein (p.Met1055Arg). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV004043067 SCV002609980 uncertain significance not specified 2024-07-13 criteria provided, single submitter clinical testing The p.M1055R variant (also known as c.3164T>G), located in coding exon 1 of the MLH3 gene, results from a T to G substitution at nucleotide position 3164. The methionine at codon 1055 is replaced by arginine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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