ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) (rs202145681)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500713 SCV000592548 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000500713 SCV000919707 likely pathogenic Lynch syndrome 2017-12-12 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.2425G>T (p.Glu809X) variant results in a premature termination codon, predicted to cause a truncated or absent MSH2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.2633_2634delAG, p.Glu878fsX3). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 277132 control chromosomes. In addition, one clinical diagnostic laboratory/reputable database classified this variant as pathogenic. 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. Taken together, this variant is classified as likely pathogenic.

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