Submissions for variant NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)

gnomAD frequency: 0.00070  dbSNP: rs138438849

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721134	SCV000233701	likely benign	not provided	2020-09-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30122538, 30086531)
Ambry Genetics	RCV001183737	SCV000317791	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-04-01	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.
Invitae	RCV001088772	SCV000753166	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-22	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659521	SCV000781347	uncertain significance	Marfan syndrome	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001721134	SCV000885423	likely benign	not provided	2023-10-19	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000659521	SCV000898697	benign	Marfan syndrome	2022-08-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001183737	SCV001349551	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721134	SCV004129815	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	FBN1: PP2, BS1
PreventionGenetics, part of Exact Sciences	RCV004537522	SCV004755383	likely benign	FBN1-related disorder	2019-02-21	criteria provided, single submitter	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).