ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2108G>A (p.Arg703His)

gnomAD frequency: 0.00011  dbSNP: rs567790419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200771 SCV000250275 uncertain significance not provided 2020-06-10 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).
Invitae RCV001296985 SCV001485964 likely benign Congenital contractural arachnodactyly 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165447 SCV003913147 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-13 criteria provided, single submitter clinical testing The p.R703H variant (also known as c.2108G>A), located in coding exon 16 of the FBN2 gene, results from a G to A substitution at nucleotide position 2108. The arginine at codon 703 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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