ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.545+19G>T (rs41285099)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157757 SCV000170287 benign not specified 2014-03-28 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.
Counsyl RCV000409249 SCV000489297 likely benign Lynch syndrome II 2016-09-13 criteria provided, single submitter clinical testing
Color Health, Inc RCV000581128 SCV000684840 likely benign Hereditary cancer-predisposing syndrome 2015-10-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000059816 SCV000696169 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Variant summary: The c.545+19G>T variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 4/5 programs in Alamut predict that this variant does not affect normal splicing. However, these prediction are not confirmed by experimental studies. This variant is found in 4/121334 control chromosomes at a frequency of 0.000033, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0007105). One clinical laboratory classified this variant as benign, however, without evidence for independent review. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance - possibly benign variant until additional information becomes available.
Narod's Lab, University of Toronto RCV000059816 SCV000091386 not provided not provided no assertion provided not provided

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