ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.183C>G (p.Pro61=)

gnomAD frequency: 0.10581  dbSNP: rs73348287
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117017 SCV000168469 benign not specified 2012-11-16 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, Mass General Brigham Personalized Medicine RCV000117017 SCV000269091 benign not specified 2013-04-04 criteria provided, single submitter clinical testing Pro61Pro in exon 1 of FBN2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 17.0% (745/4394) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73348287).
Preventiongenetics, part of Exact Sciences RCV000117017 SCV000308593 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310659 SCV000317788 benign Familial thoracic aortic aneurysm and aortic dissection 2014-11-25 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 RCV000270275 SCV000452658 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811410 SCV000603681 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000270275 SCV000743988 benign Congenital contractural arachnodactyly 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000270275 SCV001730870 benign Congenital contractural arachnodactyly 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117017 SCV004029364 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117017 SCV000151138 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000270275 SCV000745941 benign Congenital contractural arachnodactyly 2014-11-19 no assertion criteria provided clinical testing

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