Submissions for variant NM_006258.4(PRKG1):c.1968A>G (p.Ala656=)

dbSNP: rs564599393

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000868907	SCV000718923	likely benign	not provided	2018-05-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001479930	SCV001684237	likely benign	Aortic aneurysm, familial thoracic 8	2024-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420605	SCV002721568	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003935662	SCV004754173	likely benign	PRKG1-related disorder	2019-05-31	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).