ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)

gnomAD frequency: 0.00001  dbSNP: rs151329128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195945 SCV000250264 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frederic et al., 2009); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 213380; Landrum et al., 2016)
Ambry Genetics RCV002315589 SCV000739044 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-30 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.
Invitae RCV001853148 SCV002216812 likely benign Congenital contractural arachnodactyly 2023-10-23 criteria provided, single submitter clinical testing

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