ClinVar Miner

Submissions for variant NM_002711.4(PPP1R3A):c.1915G>T (p.Gly639Cys)

gnomAD frequency: 0.00493  dbSNP: rs61756423
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Total submissions: 2
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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 RCV000445369 SCV000537039 benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.122 + BP4/6 predictors, not using PP3/2 predictors), BS2 (65 cases and 59 controls in T2DM), BS1 (overall MAF in gnomAD is 0.5%): benign
Invitae RCV000965437 SCV001112705 benign not provided 2017-06-07 criteria provided, single submitter clinical testing

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