ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.159C>T (p.Ala53=) (rs780178752)

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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 RCV000165780 SCV000216525 likely benign Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing
Color RCV000165780 SCV000537497 likely benign Hereditary cancer-predisposing syndrome 2015-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000423174 SCV000521736 likely benign not specified 2016-07-05 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 RCV000587545 SCV000696219 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.159C>T variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.001% which does not exceed the maximal expected allele frequency for a pathogenic variant in MSH2 (0.06%). The variant of interest has not, to our knowledge, been reported in affected individuals nor evaluated for functional impact by in vivo/vitro studies, but has been classified by a reputable clinical lab as likely benign. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance VUS-possibly benign until additional information becomes available.
Invitae RCV000230784 SCV000284115 likely benign Hereditary nonpolyposis colon cancer 2017-08-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587545 SCV000889418 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing

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