Submissions for variant NM_000138.5(FBN1):c.5788+10C>A

gnomAD frequency: 0.00032  dbSNP: rs371560107

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035234	SCV000058879	likely benign	not specified	2010-08-09	criteria provided, single submitter	clinical testing	This variant has been previously reported in the literature in one individual wi th clinical features of Marfan syndrome. This individual had a second presumed p athogenic variant (Comeglio 2007). In addition, this variant is not expected to be clinically significant as it is neither located in the highly conserved regio n of the splicing consensus sequence nor is it predicted to alter splicing.
Illumina Laboratory Services, Illumina	RCV000379530	SCV000392264	likely benign	Marfan syndrome	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000282796	SCV000392265	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000321537	SCV000392266	likely benign	Weill-Marchesani syndrome	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000373882	SCV000392267	likely benign	Geleophysic dysplasia	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000281938	SCV000392268	likely benign	Ectopia lentis 1, isolated, autosomal dominant	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000334596	SCV000392269	likely benign	Stiff skin syndrome	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000406279	SCV000392270	likely benign	Acromicric dysplasia	2018-04-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000035234	SCV000513000	benign	not specified	2015-09-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000540069	SCV000627941	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-12-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884338	SCV004699831	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	FBN1: BS1
PreventionGenetics, part of Exact Sciences	RCV003914914	SCV004734265	likely benign	FBN1-related condition	2023-05-03	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).