ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1082A>T (p.Asp361Val)

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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 RCV004640960 SCV005138628 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing The p.D361V variant (also known as c.1082A>T), located in coding exon 1 of the MLH3 gene, results from an A to T substitution at nucleotide position 1082. The aspartic acid at codon 361 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003780 SCV005633316 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-15 criteria provided, single submitter clinical testing

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