ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.278G>A (p.Arg93Gln)

gnomAD frequency: 0.00002  dbSNP: rs781779034
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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 RCV001222381 SCV001394478 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2023-05-27 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 950632). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This variant is present in population databases (rs781779034, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 93 of the MLH3 protein (p.Arg93Gln).
Ambry Genetics RCV004032442 SCV002748298 uncertain significance not specified 2022-09-07 criteria provided, single submitter clinical testing The p.R93Q variant (also known as c.278G>A), located in coding exon 1 of the MLH3 gene, results from a G to A substitution at nucleotide position 278. The arginine at codon 93 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142178 SCV003806756 uncertain significance Endometrial carcinoma 2022-11-11 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 supporting, PP3 supporting
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004032442 SCV005090122 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing

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