ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2782T>G (p.Ser928Ala) (rs587781852)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130158 SCV000184993 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000600081 SCV000712648 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing The p.Ser928Ala variant in MSH2 has not been previously reported in individuals with hereditary cancer or in large population studies. Computational prediction tools and conservation analysis suggest that the p.Ser928Ala variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, the clinical significance of the p.Ser928Ala variant is uncertain.

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