ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)

dbSNP: rs142755118
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000659022 SCV000250134 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 213254; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV000228951 SCV000287280 likely benign Congenital contractural arachnodactyly 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310775 SCV000318709 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000228951 SCV000452543 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Eurofins Ntd Llc (ga) RCV000659022 SCV000703497 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659022 SCV000780826 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000659022 SCV000883879 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing The FBN2 c.8082C>A; p.His2694Gln variant (rs142755118), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213254). This variant is found in the non-Finnish European population with an allele frequency of 0.07% (94/129026 alleles) in the Genome Aggregation Database. The histidine at codon 2694 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.319). Due to limited information, the clinical significance of the p.His2694Gln variant is uncertain at this time.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277512 SCV002565974 likely benign Ehlers-Danlos syndrome 2021-08-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330563 SCV004039308 likely benign not specified 2023-08-24 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000228951 SCV001423252 not provided Congenital contractural arachnodactyly no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-27-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000659022 SCV001978136 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000659022 SCV001979585 likely benign not provided no assertion criteria provided clinical testing

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