ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1153G>C (p.Asp385His)

dbSNP: rs201389281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002164643 SCV002333340 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045003 SCV003913750 uncertain significance not specified 2023-02-02 criteria provided, single submitter clinical testing The p.D385H variant (also known as c.1153G>C), located in coding exon 1 of the MLH3 gene, results from a G to C substitution at nucleotide position 1153. The aspartic acid at codon 385 is replaced by histidine, an amino acid with similar properties. This alteration was detected in 0/30 probands with colorectal cancer and 1/90 cancer-free controls (Hienonen T et al. Int J Cancer, 2003 Aug;106:292-6). This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004045003 SCV005872866 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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