ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) (rs112287730)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035156 SCV000058797 likely benign not specified 2014-12-02 criteria provided, single submitter clinical testing p.Ala986Thr in exon 25 of FBN1: This variant is not expected to have clinical si gnificance because it has been identified in 0.198% (134/67678) of non-Finnish E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs112287730). This variant has been reported in 5 individua ls with clinical features of Marfan syndrom and/or connective tissue disorder, b ut was also identified in 2 unaffected relatives from two families (Rommel 2002, Frederic 2009, Aboni 2013, Lerner-Ellis 2014).
CSER _CC_NCGL, University of Washington RCV000029720 SCV000212201 likely benign Marfan syndrome 2015-03-11 criteria provided, single submitter research
GeneDx RCV000035156 SCV000233776 likely benign not specified 2018-01-05 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000029720 SCV000257633 benign Marfan syndrome 2015-07-09 criteria provided, single submitter clinical testing
Invitae RCV000232842 SCV000283615 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035156 SCV000302546 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617040 SCV000317391 benign Cardiovascular phenotype 2015-02-18 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Does not segregate with disease in family study (genes with complete penetrance)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035156 SCV000344374 likely benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362429 SCV000392508 benign Geleophysic dysplasia 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000143891 SCV000392509 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-12 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000309065 SCV000392510 benign Ectopia lentis, isolated, autosomal dominant 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000366054 SCV000392511 benign Acromicric dysplasia 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000322108 SCV000392513 benign Weill-Marchesani syndrome 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000029720 SCV000392514 benign Marfan syndrome 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000268151 SCV000392515 benign Stiff skin syndrome 2018-01-12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659523 SCV000781349 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000143891 SCV000902995 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Mendelics RCV000029720 SCV001139616 likely benign Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000143891 SCV001333957 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029720 SCV000052373 benign Marfan syndrome 2012-03-13 no assertion criteria provided clinical testing
Blueprint Genetics RCV000143891 SCV000188760 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2013-12-27 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000029720 SCV000786906 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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