ClinVar Miner

Submissions for variant NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) (rs117524265)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000513981 SCV000603692 benign not provided 2017-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250204 SCV000317900 benign Cardiovascular phenotype 2015-02-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc RCV000659594 SCV000781433 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513981 SCV000609849 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179399 SCV000231644 benign not specified 2015-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000179399 SCV000168530 benign not specified 2013-02-21 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 RCV000404713 SCV000452649 likely benign Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000513981 SCV000697903 benign not provided 2017-03-29 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.728T>C (p.Ile243Thr) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. The variant lies within a TB domain (InterPro) and 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in the large control database ExAC at a frequency of 0.009478 (1150/121334 control chromosomes [18 homozygotes]), which is approximately 7582 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In a study of 49 Marfan syndrome or suspected Marfan syndrome patients where several disease-related genes were sequenced, including FBN2, the variant was detected and described as a polymorphism (Sakai_FBN1_AJMGA_2006). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000404713 SCV000563020 benign Congenital contractural arachnodactyly 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179399 SCV000308647 benign not specified criteria provided, single submitter clinical testing

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