Submissions for variant NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)

gnomAD frequency: 0.00113  dbSNP: rs61730054

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029736	SCV000052389	uncertain	Marfan syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035201	SCV000058843	likely benign	not specified	2018-12-31	criteria provided, single submitter	clinical testing	The p.Ser1481Gly variant in FBN1 is classified as likely benign because it has b een identified in 0.4% (97/24962) of African chromosomes by gnomAD (http://gnoma d.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
Eurofins Ntd Llc (ga)	RCV000724063	SCV000229808	uncertain significance	not provided	2014-09-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515317	SCV000611391	uncertain significance	Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome	2017-05-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001176800	SCV000738752	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-07	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	RCV001088381	SCV000753160	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-24	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000029736	SCV000781370	likely benign	Marfan syndrome	2016-11-01	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000029736	SCV000803588	likely benign	Marfan syndrome	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Likely Benign, for Marfan syndrome, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:21542060). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000035201	SCV000883854	likely benign	not specified	2018-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000724063	SCV000977387	likely benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24793577, 21542060, 27647783)
Color Diagnostics, LLC DBA Color Health	RCV001176800	SCV001340855	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-14	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV000029736	SCV001469041	likely benign	Marfan syndrome	2020-12-07	criteria provided, single submitter	clinical testing
Centre of Medical Genetics, University of Antwerp	RCV000029736	SCV002025458	uncertain significance	Marfan syndrome	2021-03-01	criteria provided, single submitter	research	PP4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001176800	SCV002041985	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541020	SCV004761636	likely benign	FBN1-related disorder	2021-04-14	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).