Submissions for variant NM_000138.5(FBN1):c.1992A>T (p.Gly664=)

gnomAD frequency: 0.00003  dbSNP: rs183929553

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001190416	SCV001357897	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516078	SCV001724292	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001597252	SCV001830529	likely benign	not provided	2021-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276657	SCV002566512	likely benign	Connective tissue disorder	2020-05-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001190416	SCV002718248	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-03	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235488	SCV003934304	likely benign	not specified	2023-05-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004010433	SCV004814929	benign	Marfan syndrome	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538423	SCV004715704	likely benign	FBN1-related disorder	2022-06-22	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).