Submissions for variant NM_000939.4(POMC):c.583G>A (p.Ala195Thr)

gnomAD frequency: 0.00247  dbSNP: rs141309351

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000889361	SCV001033038	benign	not provided	2023-10-05	criteria provided, single submitter	clinical testing
Mendelics	RCV000986597	SCV001135629	uncertain significance	Obesity due to pro-opiomelanocortin deficiency	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000889361	SCV002012849	uncertain significance	not provided	2023-08-14	criteria provided, single submitter	clinical testing	Reported in a couple individuals with obesity, but also reported in control populations (Lee et al., 2006; Dubern et al., 2008); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23028917, 34097736, 22995991, 16459314, 18091355)
Genetic Services Laboratory, University of Chicago	RCV001818652	SCV002066361	likely benign	not specified	2020-02-24	criteria provided, single submitter	clinical testing
New York Genome Center	RCV003227875	SCV002764492	uncertain significance	Obesity due to pro-opiomelanocortin deficiency; Inherited obesity	2022-08-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530957	SCV004750892	likely benign	POMC-related disorder	2022-02-04	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).