ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.-15T>C

dbSNP: rs764112241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176248 SCV001340131 likely benign Hereditary cancer-predisposing syndrome 2022-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176248 SCV002709143 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-09 criteria provided, single submitter clinical testing The c.-15T>C variant located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from a T to C substitution 15 bases 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. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42,000 alleles tested) in our clinical cohort. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-15T>C remains unclear.

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