ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) (rs143007898)

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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 RCV000617159 SCV000319265 likely benign Cardiovascular phenotype 2014-04-08 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000248624 SCV000392036 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333030 SCV000392037 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373725 SCV000392038 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279195 SCV000392039 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338888 SCV000392040 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399054 SCV000392041 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284981 SCV000392042 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339896 SCV000392043 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589560 SCV000695622 benign not provided 2017-06-06 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.8363C>T (p.Thr2788Met) variant alters a conserved nucleotide. The variant is located outside of any known functional domain or repeat, although 3/4 in silico tools (SNPs&GO not captured here due to low reliability) predict a damaging outcome for this variant. The variant of interest has been identified in a large, broad control datasets of ExAC and gnomAD at a similar frequencies of 0.0001071 (13/121406 chrs and 26/277156 chrs tested, respectively). In both datasets, the variant was identified exclusively in individuals of African ancestry (0.001249; 13/10406 chrs tested and 0.0009987; 24/24032). The observed frequencies exceed the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001), suggesting that the variant represents a rare ethnic-specific functional polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, but is sited as Likely Benign by clinical diagnostic laboratories/reputable databases. Taken together, this variant is classified as a Benign.
Color Health, Inc RCV000248624 SCV000913678 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-26 criteria provided, single submitter clinical testing
Invitae RCV001085174 SCV001003336 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-08-24 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000279195 SCV000787410 likely benign Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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