ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003222538 SCV003915747 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2023-04-07 criteria provided, single submitter clinical testing A heterozygous missense substitution (p.Glu771Val) lies in exon 2 of the MLH3 gene and alters a conserved residue in the protein. The In silico prediction of the aer variant damaging by SIFT. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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