Submissions for variant NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)

gnomAD frequency: 0.00004  dbSNP: rs761759814

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524770	SCV000659235	likely benign	Aortic aneurysm, familial thoracic 8	2024-05-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315042	SCV000739593	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-09	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.
GeneDx	RCV001551027	SCV001771447	likely benign	not provided	2018-08-27	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000524770	SCV003809885	uncertain significance	Aortic aneurysm, familial thoracic 8	2021-06-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004754476	SCV005366964	likely benign	PRKG1-related disorder	2024-03-14	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).