ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2395G>C (p.Glu799Gln)

dbSNP: rs1892306512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326346 SCV001517374 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-02-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1025955). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 799 of the MLH3 protein (p.Glu799Gln).
Ambry Genetics RCV004035200 SCV004097674 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing The p.E799Q variant (also known as c.2395G>C), located in coding exon 1 of the MLH3 gene, results from a G to C substitution at nucleotide position 2395. The glutamic acid at codon 799 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV005012777 SCV005635784 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-02-13 criteria provided, single submitter clinical testing

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