ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.510C>T (p.Tyr170=) (rs111671429)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000726148 SCV000603666 benign not provided 2018-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619362 SCV000738750 likely benign Cardiovascular phenotype 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000311281 SCV000901064 likely benign Thoracic aortic aneurysm and aortic dissection 2016-04-15 criteria provided, single submitter clinical testing
Color RCV000311281 SCV000903191 likely benign Thoracic aortic aneurysm and aortic dissection 2018-09-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726148 SCV000342404 uncertain significance not provided 2016-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000035220 SCV000168467 benign not specified 2014-01-12 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 RCV000308793 SCV000392690 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029748 SCV000392691 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393923 SCV000392692 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307637 SCV000392693 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369297 SCV000392694 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277063 SCV000392695 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311281 SCV000392696 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368323 SCV000392697 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029748 SCV000052401 benign Marfan syndrome 2012-11-19 no assertion criteria provided clinical testing
Invitae RCV000456461 SCV000557026 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035220 SCV000058865 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Tyr170Tyr in exon 5 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (143/126624) o f European chromosomes, including 1 homozygote, by the Genome Aggregation Databa se (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs111671429).
PreventionGenetics RCV000035220 SCV000302566 likely benign not specified criteria provided, single submitter clinical testing

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