ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.306+3A>G (rs267607731)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433858 SCV000528235 likely benign not specified 2018-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000557091 SCV000625144 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-04-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580041 SCV000684816 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580041 SCV001179591 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-19 criteria provided, single submitter clinical testing The c.306+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 3 in the MLH1 gene. This nucleotide position is well conserved in available vertebrate species. <span style="font-size: 13px;">In silico splice site analysis for this alteration is inconclusive. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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