ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5823T>C (p.His1941=) (rs11955288)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117025 SCV000151147 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000117025 SCV000168505 benign not specified 2012-11-05 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 RCV000117025 SCV000269100 benign not specified 2013-04-04 criteria provided, single submitter clinical testing His1941His in exon 46 of FBN2: 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 10.6% (466/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11955288).
PreventionGenetics,PreventionGenetics RCV000117025 SCV000308627 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245587 SCV000317710 benign Cardiovascular phenotype 2014-11-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000278198 SCV000452575 benign Congenital contractural arachnodactyly 2018-01-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589871 SCV000697895 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.5823T>C (p.His1941His) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.0948795 (11503/121238 control chromosomes [584 homozygotes]), which is approximately 75904 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/reputable databases classified this variant as benign. To our knowledge, the variant of interest has not been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282908 SCV001158635 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Invitae RCV000278198 SCV001728667 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing

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