ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.339C>T (p.His113=) (rs886056141)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573597 SCV000676118 likely benign Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000573597 SCV000685397 likely benign Hereditary cancer-predisposing syndrome 2016-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000588746 SCV000969797 likely benign not provided 2018-05-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000381615 SCV000430951 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588746 SCV000695862 uncertain significance not provided 2016-11-25 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.339C>T (p.His113His) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121408 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000627739 SCV000561475 likely benign Hereditary nonpolyposis colon cancer 2017-08-27 criteria provided, single submitter clinical testing

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