ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.415A>G (p.Arg139Gly)

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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 RCV004051798 SCV002626851 uncertain significance not specified 2023-09-05 criteria provided, single submitter clinical testing The p.R139G variant (also known as c.415A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 415. The arginine at codon 139 is replaced by glycine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV005008546 SCV005633328 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-01-26 criteria provided, single submitter clinical testing

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