ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) (rs143677764)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552622 SCV000627999 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2616 of the FBN1 protein (p.Ile2616Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs143677764, ExAC 0.01%). This variant has been reported in the literature in one individual affected with Marfan syndrome and in one unaffected carrier (PMID: 17627385). ClinVar contains an entry for this variant (Variation ID: 161237). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593778 SCV000701928 uncertain significance not provided 2017-10-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001118561 SCV001276852 benign Weill-Marchesani syndrome 2019-08-14 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 RCV001118562 SCV001276853 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-14 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 RCV001118563 SCV001276854 benign Geleophysic dysplasia 2019-08-14 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 RCV001118564 SCV001276855 benign Ectopia lentis, isolated, autosomal dominant 2019-08-14 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 RCV000148491 SCV001276856 likely benign Marfan syndrome 2019-08-14 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 Clinical Services Laboratory,Illumina RCV001118565 SCV001276857 benign Stiff skin syndrome 2019-08-14 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 RCV001118566 SCV001276858 benign Acromicric dysplasia 2019-08-14 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.
Color RCV001118562 SCV001358496 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-12-02 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148491 SCV000190197 uncertain significance Marfan syndrome 2014-06-01 no assertion criteria provided research

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