Submissions for variant NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)

gnomAD frequency: 0.00186  dbSNP: rs142145391

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445461	SCV000537072	benign	Monogenic diabetes	2018-01-12	criteria provided, single submitter	research	ACMG criteria: PP3 (10 predictors), BS1 (MAF too high for disorder, 0.59% in Africans), BS2(1 homozygote in ExAC in congenital disorder)=Benign
Invitae	RCV000969569	SCV001117095	likely benign	not provided	2023-11-19	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000969569	SCV004225196	uncertain significance	not provided	2022-10-04	criteria provided, single submitter	clinical testing	BS1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003884538	SCV004698140	likely risk allele	Congenital generalized lipodystrophy type 1		criteria provided, single submitter	research	Potent mutations in AGPAT2 gene are associated with Congenital generalized lipodystrophy, type 1, which can present with insulin resistance, fatty liver and diabetes. However, the role of this particular variant rs142145391 in Congenital generalized lipodystrophy is yet to be ascertained.
PreventionGenetics, part of Exact Sciences	RCV003970249	SCV004784382	likely benign	AGPAT2-related condition	2020-03-27	criteria provided, single submitter	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).