ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) (rs149697299)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617115 SCV000317902 likely benign Cardiovascular phenotype 2016-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487841 SCV000575006 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000419193 SCV000513005 likely benign not specified 2018-01-04 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.
Illumina Clinical Services Laboratory,Illumina RCV000299356 SCV000392148 uncertain significance MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000245150 SCV000392149 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390288 SCV000392150 uncertain significance Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303029 SCV000392151 uncertain significance Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360147 SCV000392152 uncertain significance Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269442 SCV000392153 uncertain significance Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305833 SCV000392154 uncertain significance Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360515 SCV000392155 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000487841 SCV000695595 likely benign not provided 2016-06-14 criteria provided, single submitter clinical testing Variant summary: The c.7056C>T (p.Ser2352Ser) is a synonymous change that involves a non-conserved nucleotide with 5/5 in silico program via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was found in a large, broad control population, ExAC, with an allele frequency of 8/120866 (1/15108), which is comparable to the maximum expected allele frequency for a pathogenic FBN1 variant of 1/8888. The variant of interest was identified in individual with a probably pathogenic FBN1 variant, c.4794_4795insATAA (p.Pro1599fsX11 classified as likely pathogenic) (internal LCA). The variant of interest has not, to our knowledge, been reported as causative in affected individuals via publications and/or reputable databases/clinical laboratories. Taken together, the variant of interest is classified as Likely Benign until additional information becomes available.
Invitae RCV000473698 SCV000557048 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-10-22 criteria provided, single submitter clinical testing

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