ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2491C>T (p.Pro831Ser)

gnomAD frequency: 0.00001  dbSNP: rs1356949383
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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 RCV001326398 SCV001517427 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2020-10-20 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 proline with serine at codon 831 of the MLH3 protein (p.Pro831Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.
Ambry Genetics RCV004035203 SCV004095914 uncertain significance not specified 2023-08-24 criteria provided, single submitter clinical testing The p.P831S variant (also known as c.2491C>T), located in coding exon 1 of the MLH3 gene, results from a C to T substitution at nucleotide position 2491. The proline at codon 831 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012778 SCV005635783 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-22 criteria provided, single submitter clinical testing

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