ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.770G>A (p.Arg257Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154795 SCV003843736 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246190 SCV004093816 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing The p.R257K variant (also known as c.770G>A), located in coding exon 1 of the MLH3 gene, results from a G to A substitution at nucleotide position 770. The arginine at codon 257 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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