ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2895G>A (p.Glu965=) (rs140591)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035154 SCV000058795 likely benign not specified 2012-10-23 criteria provided, single submitter clinical testing Glu965Glu in Exon 24 of FBN1: This variant is not expected to have clinical sign ificance because it does not alter the amino acid residue and it is not located within the splice consensus sequence. It has been identified in approximately 0. 1% (8/8592) of European American chromosomes from a broad population by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140591).
GeneDx RCV000035154 SCV000168440 benign not specified 2014-02-22 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 RCV000227421 SCV000283613 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314502 SCV000392524 benign Weill-Marchesani syndrome 2018-01-13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000350683 SCV000392525 likely benign Marfan syndrome 2018-01-13 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 Clinical Services Laboratory,Illumina RCV000406637 SCV000392526 benign Acromicric dysplasia 2018-01-13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000310979 SCV000392527 benign Geleophysic dysplasia 2018-01-13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000356235 SCV000392528 benign Ectopia lentis, isolated, autosomal dominant 2018-01-13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000297968 SCV000392530 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-13 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 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 RCV000362108 SCV000392531 benign Stiff skin syndrome 2018-01-13 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035154 SCV000603633 benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619238 SCV000738767 benign Cardiovascular phenotype 2017-01-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000350683 SCV000807922 likely benign Marfan syndrome 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000297968 SCV000904502 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-13 criteria provided, single submitter clinical testing

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