ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.470T>C (p.Val157Ala)

dbSNP: rs1892490042
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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 RCV001312490 SCV001502946 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 157 of the MLH3 protein (p.Val157Ala). This variant is not present in population databases (gnomAD no frequency). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1013839). This variant has not been reported in the literature in individuals affected with MLH3-related conditions.
Ambry Genetics RCV004034258 SCV002637634 uncertain significance not specified 2023-11-16 criteria provided, single submitter clinical testing The p.V157A variant (also known as c.470T>C), located in coding exon 1 of the MLH3 gene, results from a T to C substitution at nucleotide position 470. The valine at codon 157 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005159 SCV005633327 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-02-28 criteria provided, single submitter clinical testing

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