ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)

gnomAD frequency: 0.00004  dbSNP: rs772994944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Molecular Genetics and Genomics, 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.

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