ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.-205G>C

dbSNP: rs786202911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221448 SCV000277241 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-20 criteria provided, single submitter clinical testing The c.-205G>C variant located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from a G to C substitution 205 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.-205G>C remains unclear.

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