ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.519G>C (p.Gln173His)

dbSNP: rs1060503070
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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 RCV000464186 SCV000551784 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 173 of the MLH3 protein (p.Gln173His). 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: 410905). 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 RCV004022854 SCV002644346 uncertain significance not specified 2024-08-31 criteria provided, single submitter clinical testing The p.Q173H variant (also known as c.519G>C), located in coding exon 1 of the MLH3 gene, results from a G to C substitution at nucleotide position 519. The glutamine at codon 173 is replaced by histidine, 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.

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