ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2052G>C (p.Glu684Asp)

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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 RCV004059653 SCV002728255 uncertain significance not specified 2023-11-14 criteria provided, single submitter clinical testing The p.E684D variant (also known as c.2052G>C), located in coding exon 1 of the MLH3 gene, results from a G to C substitution at nucleotide position 2052. The glutamic acid at codon 684 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV005008580 SCV005635787 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-06-18 criteria provided, single submitter clinical testing

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