ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2049C>A (p.Phe683Leu)

dbSNP: rs1449199195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757085 SCV001996613 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002421263 SCV002726190 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-24 criteria provided, single submitter clinical testing The p.F683L variant (also known as c.2049C>A), located in coding exon 18 of the MLH1 gene, results from a C to A substitution at nucleotide position 2049. The phenylalanine at codon 683 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV003316848 SCV004019720 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease.

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