Submissions for variant NM_080425.4(GNAS):c.1455C>A (p.Ala485=)

gnomAD frequency: 0.00388  dbSNP: rs55890501

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879924	SCV001022980	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002481496	SCV002794808	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	2022-02-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000879924	SCV004150707	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	GNAS: BP4, BS1, BS2
Division of Human Genetics, Children's Hospital of Philadelphia	RCV000477956	SCV000536888	uncertain significance	Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia	2016-02-09	no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000879924	SCV001797648	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000879924	SCV001923995	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726187	SCV001962755	benign	not specified		no assertion criteria provided	clinical testing