ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.849T>C (p.Asp283=) (rs876659344)

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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 RCV000218659 SCV000275706 likely benign Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586313 SCV000696290 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.849T>C (p.Asp283Asp) variant causes a synonymous change involving a non-conserved nucleotide, with 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. A clinical diagnostic laboratory cites the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000630367 SCV000751323 likely benign Hereditary nonpolyposis colon cancer 2017-11-03 criteria provided, single submitter clinical testing

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