ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3263A>G (p.Asp1088Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004049392 SCV002611441 uncertain significance not specified 2024-05-25 criteria provided, single submitter clinical testing The p.D1088G variant (also known as c.3263A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 3263. The aspartic acid at codon 1088 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV005008535 SCV005635767 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005096214 SCV005836085 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2024-03-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1088 of the MLH3 protein (p.Asp1088Gly). 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: 1729551). 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.

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