ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2964C>G (p.Ile988Met)

gnomAD frequency: 0.00004  dbSNP: rs201936675
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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 RCV000867227 SCV001008428 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027694 SCV002752062 uncertain significance not specified 2024-10-09 criteria provided, single submitter clinical testing The p.I988M variant (also known as c.2964C>G), located in coding exon 1 of the MLH3 gene, results from a C to G substitution at nucleotide position 2964. The isoleucine at codon 988 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV005012388 SCV005635773 uncertain significance Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer 2024-05-20 criteria provided, single submitter clinical testing

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