ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1387A>G (p.Ser463Gly)

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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 RCV004366116 SCV004093741 uncertain significance not specified 2023-07-06 criteria provided, single submitter clinical testing The p.S463G variant (also known as c.1387A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 1387. The serine at codon 463 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV005012911 SCV005635799 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-30 criteria provided, single submitter clinical testing

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