ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) (rs25397)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617157 SCV000318993 benign Cardiovascular phenotype 2013-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000246481 SCV000904489 benign Thoracic aortic aneurysm and aortic dissection 2018-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000150707 SCV000233706 likely benign not specified 2015-05-14 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 RCV000246481 SCV000392730 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338830 SCV000392731 likely benign Stiff skin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391023 SCV000392732 likely benign Acromicric dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303596 SCV000392733 likely benign Geleophysic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358510 SCV000392734 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391019 SCV000392735 likely benign Weill-Marchesani syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304049 SCV000392736 likely benign MASS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363432 SCV000392737 likely benign Ectopia lentis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588579 SCV000695613 benign not provided 2017-07-20 criteria provided, single submitter clinical testing Variant summary: The FBN1 c.79G>A (p.Ala27Thr) variant involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a benign outcome. However, these predictions have yet to be functionally assessed. This variant was found in 60/124386 control chromosomes, predominantly observed in the East Asian cohort at a frequency of 0.00601 (52/8652). This frequency is about 53 times the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this is likely a benign polymorphism found primarily in population(s) of East Asia. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
Invitae RCV000465792 SCV000557027 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2016-10-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150707 SCV000198115 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing p.Ala27Thr in exon 1 of FBN1: This variant is not expected to have clinical significance because it has been identified in 0.6% (52/8652) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs25397).

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