ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) (rs147157552)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724479 SCV000230187 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000199324 SCV000250094 likely benign not specified 2018-02-02 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 RCV000199324 SCV000271786 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr173Ile var iant in FBN2 has not been previously reported in individuals with connective tis sue disorders. It has been identified in 0.2% (146/65724) of European chromosom es, including 1 homozygous individual, by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs147157552). Computational prediction t ools and conservation analysis suggest that this variant may not impact the prot ein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Thr173Ile variant is uncer tain, its frequency and lack of conservation suggests that it is more likely to be benign.
Invitae RCV000229340 SCV000287266 likely benign Congenital contractural arachnodactyly 2020-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617091 SCV000317367 likely benign Cardiovascular phenotype 2017-11-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000229340 SCV000452654 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659593 SCV000781432 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143896 SCV000188765 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-05-19 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724479 SCV001797510 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000724479 SCV001809024 likely benign not provided no assertion criteria provided clinical testing

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