ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) (rs2291628)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117032 SCV000151154 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117032 SCV000168519 benign not specified 2012-11-29 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117032 SCV000269107 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Ser2580Leu in exon 61 of FBN2: This variant is not expected to have clinical sig nificance because it has been identified in 8.1% (358/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2291628).
PreventionGenetics,PreventionGenetics RCV000117032 SCV000308652 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243767 SCV000317332 benign Cardiovascular phenotype 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000300606 SCV000452547 benign Congenital contractural arachnodactyly 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282906 SCV000603683 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590779 SCV000697904 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.7739C>T (p.Ser2580Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. The variant of interest has been observed in a large, broad control population, ExAC, in 9006/121038 control chromosomes (359 homozygotes) at a frequency of 0.0744064, which is approximately 59525 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000300606 SCV000745424 benign Congenital contractural arachnodactyly 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000300606 SCV001722943 benign Congenital contractural arachnodactyly 2020-12-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000300606 SCV000745923 benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing

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