ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.3243C>G (p.Asp1081Glu)

gnomAD frequency: 0.00001  dbSNP: rs1471595778
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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 RCV001346823 SCV001541056 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2020-10-30 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MLH3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 1081 of the MLH3 protein (p.Asp1081Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
Ambry Genetics RCV004036501 SCV002610970 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing The c.3243C>G (p.D1081E) alteration is located in exon 2 (coding exon 1) of the MLH3 gene. This alteration results from a C to G substitution at nucleotide position 3243, causing the aspartic acid (D) at amino acid position 1081 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005854 SCV005635769 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-04 criteria provided, single submitter clinical testing

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