ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1990A>G (p.Lys664Glu)

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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 RCV004521144 SCV005037195 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing The p.K664E variant (also known as c.1990A>G), located in coding exon 1 of the MLH3 gene, results from an A to G substitution at nucleotide position 1990. The lysine at codon 664 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006431 SCV005635788 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-01-22 criteria provided, single submitter clinical testing

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