ClinVar Miner

Submissions for variant NM_002666.5(PLIN1):c.1139C>T (p.Ala380Val)

gnomAD frequency: 0.00628  dbSNP: rs146385147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117988 SCV000152305 uncertain significance not provided 2013-09-05 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445471 SCV000537095 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BA1 (2.1% MAF in gnomAD Africans), BS2 (66 cases and 47 controls in T2DM)= benign (REVEL 0.199 + PP3/3 predictors + BP4/7 predictors: conflicting evidence, not using)
Labcorp Genetics (formerly Invitae), Labcorp RCV000117988 SCV001120234 benign not provided 2018-08-20 criteria provided, single submitter clinical testing

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