ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3106G>C (p.Glu1036Gln)

dbSNP: rs1555344886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526607 SCV000659590 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2017-01-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MLH3-related disease. This sequence change replaces glutamic acid with glutamine at codon 1036 of the MLH3 protein (p.Glu1036Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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