ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1380C>G (p.Asn460Lys)

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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 RCV004058937 SCV002699816 uncertain significance not specified 2023-04-09 criteria provided, single submitter clinical testing The p.N460K variant (also known as c.1380C>G), located in coding exon 1 of the MLH3 gene, results from a C to G substitution at nucleotide position 1380. The asparagine at codon 460 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. 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 RCV005008570 SCV005635800 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-03-07 criteria provided, single submitter clinical testing

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