Submissions for variant NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)

gnomAD frequency: 0.01117  dbSNP: rs148033592

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001547748	SCV001767528	likely benign	not provided	2018-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30022773)
Fulgent Genetics, Fulgent Genetics	RCV002492424	SCV002799389	likely benign	McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A	2022-04-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001547748	SCV005210008	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000121162	SCV000085330	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001547748	SCV001799288	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000121162	SCV001921717	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542876	SCV004796384	benign	GNAS-related disorder	2019-09-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).