ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1592G>A (p.Ser531Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004057368 SCV002706803 uncertain significance not specified 2024-10-28 criteria provided, single submitter clinical testing The p.S531N variant (also known as c.1592G>A), located in coding exon 1 of the MLH3 gene, results from a G to A substitution at nucleotide position 1592. The serine at codon 531 is replaced by asparagine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003614152 SCV004518338 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-11-29 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 asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with MLH3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 531 of the MLH3 protein (p.Ser531Asn).

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