Submissions for variant NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)

gnomAD frequency: 0.00243  dbSNP: rs74407840

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000785103	SCV000923661	uncertain significance	PLIN1-related familial partial lipodystrophy	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000969373	SCV001116886	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174448	SCV001337587	likely benign	Monogenic diabetes	2018-04-09	criteria provided, single submitter	research	ACMG criteria: PP3 (2 predictors), BP4 (7 predictors), REVEL 0.058, BS2 (15 cases and 13 controls in type2diabetesgenetics.org)=likely benign
CeGaT Center for Human Genetics Tuebingen	RCV000969373	SCV005435786	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	PLIN1: BP4, BS2
Genetic Services Laboratory, University of Chicago	RCV003151147	SCV003839880	likely benign	not specified	2022-08-08	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918264	SCV004735697	likely benign	PLIN1-related disorder	2019-06-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).