ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.-8G>T

dbSNP: rs761672073
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000759815 SCV000567995 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759815 SCV000889409 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773113 SCV000906598 likely benign Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773113 SCV002685059 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing The c.-8G>T variant is located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from a G to T substitution 8 nucleotides upstream from the first translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 65,000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-8G>T remains unclear.
All of Us Research Program, National Institutes of Health RCV004003309 SCV004816406 likely benign Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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