Submissions for variant NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr)

gnomAD frequency: 0.00109  dbSNP: rs139646798

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000999859	SCV000557792	benign	Aortic aneurysm, familial thoracic 8	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000612821	SCV000731097	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002313203	SCV000739566	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999859	SCV000884410	benign	Aortic aneurysm, familial thoracic 8	2021-09-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000612821	SCV004029000	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing