ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.208-4A>G

dbSNP: rs1575413898
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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 RCV001014373 SCV001175071 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing The c.208-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 3 in the MLH1 gene. This nucleotide position is poorly conserved in available vertebrate species. The BDGP splice prediction software predicts a weakening in the native splice acceptor site efficiency while the ESEfinder splice prediction software predicts the creation of a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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