ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8154C>T (p.Leu2718=)

gnomAD frequency: 0.00635  dbSNP: rs34119447
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117033 SCV000168523 benign not specified 2014-01-11 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.
Invitae RCV000226482 SCV000287282 benign Congenital contractural arachnodactyly 2024-01-26 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000117033 SCV000308655 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310671 SCV000317377 benign Familial thoracic aortic aneurysm and aortic dissection 2015-03-02 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 Laboratory Services, Illumina RCV000226482 SCV000452542 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 RCV000757282 SCV000885441 benign not provided 2018-01-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277174 SCV002565977 benign Ehlers-Danlos syndrome 2019-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117033 SCV004029400 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117033 SCV000151155 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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