Submissions for variant NM_000138.5(FBN1):c.1242T>G (p.Pro414=)

gnomAD frequency: 0.00004  dbSNP: rs371929738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698403	SCV000726019	likely benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001185272	SCV000738783	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632060	SCV000753163	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001185272	SCV001351447	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001185272	SCV003838361	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-02-17	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002576	SCV004823067	likely benign	Marfan syndrome	2023-12-18	criteria provided, single submitter	clinical testing