Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195870 | SCV000250301 | uncertain significance | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic in association with a FBN2-related disorder to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frdric et al., 2009); Reported in ClinVar (ClinVar Variant ID# 213417); This variant is associated with the following publications: (PMID: 18767143, 30257206) |
Invitae | RCV001493386 | SCV001698011 | likely benign | Congenital contractural arachnodactyly | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354549 | SCV002659873 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-01 | 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. |
ARUP Laboratories, |
RCV000195870 | SCV004565313 | uncertain significance | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | The FBN2 c.6073G>A; p.Gly2025Ser variant (rs772994944), to our knowledge, is not reported in the medical literature in association with a FBN2-related disorder but is reported in ClinVar (Variation ID: 213417). This variant is found in the East Asian population with an allele frequency of 0.0953% (19/19,930 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.621). Due to limited information, the clinical significance of this variant is uncertain at this time. |