ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.27G>T (p.Arg9=) (rs759680369)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571568 SCV000669530 likely benign Hereditary cancer-predisposing syndrome 2014-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000423234 SCV000526668 likely benign not specified 2016-04-06 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.
Integrated Genetics/Laboratory Corporation of America RCV000423234 SCV000917648 uncertain significance not specified 2018-03-05 criteria provided, single submitter clinical testing Variant summary: MLH1 c.27G>T alters a non-conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 8.1e-06 in 246252 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in MLH1 causing Lynch Syndrome (8.1e-06 vs 0.00071), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.27G>T in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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