ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1040G>A (p.Arg347His) (rs112428886)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195214 SCV000247360 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000195214 SCV000250097 benign not specified 2017-09-22 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 RCV000205887 SCV000261635 benign Congenital contractural arachnodactyly 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195214 SCV000308587 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248121 SCV000317688 likely benign Cardiovascular phenotype 2018-06-06 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000195214 SCV000344402 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205887 SCV000452643 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 Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514320 SCV000610047 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000514320 SCV000697891 benign not provided 2017-03-29 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.1040G>A (p.Arg347His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 547/121296 control chromosomes (3 homozygotes) at a frequency of 0.0045096, which is approximately 3608 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 likely benign/benign. Taken together, this variant is classified as benign.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659597 SCV000781436 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283391 SCV000883872 benign none provided 2019-10-09 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514320 SCV001800517 likely benign not provided no assertion criteria provided clinical testing

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