ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1459A>C (p.Lys487Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174371 SCV001337509 uncertain significance Monogenic diabetes 2018-08-24 criteria provided, single submitter research ACMG criteria: (PP3:5 predictors, BP4:4 predictors and REVEL=0.393, conflicting evidence, not using both), PM2=VUS. Note: K487E was reported in PMID: 2834824 in trans with nonsense mutation in patient with extreme insulin resistance.

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