ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.4001A>G (p.Glu1334Gly)

dbSNP: rs1555387525
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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 RCV000655387 SCV000777317 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2017-09-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamic acid with glycine at codon 1334 of the MLH3 protein (p.Glu1334Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MLH3-related disease. 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 RCV004639310 SCV005131742 uncertain significance not specified 2024-06-16 criteria provided, single submitter clinical testing The p.E1334G variant (also known as c.4001A>G), located in coding exon 9 of the MLH3 gene, results from an A to G substitution at nucleotide position 4001. The glutamic acid at codon 1334 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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