ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2305T>C (p.Tyr769His) (rs1114167859)

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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 RCV000491056 SCV000580574 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825374 SCV000966669 uncertain significance not specified 2018-10-16 criteria provided, single submitter clinical testing The p.Tyr769His variant in MSH2 has not been reported in the literature in indiv iduals with MSH2-associated cancers, but has been reported by another clinical l aboratory in ClinVar (Variation ID: 428524). This variant was absent from large population studies. Computational prediction tools and conservation analysis sug gest that the p.Tyr769His variant may not impact the protein. In summary, the cl inical significance of the p.Tyr769His variant is uncertain. ACMG/AMP Criteria a pplied: PM2, BP4.

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