ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2363G>A (p.Arg788His)

gnomAD frequency: 0.00004  dbSNP: rs368116715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247140 SCV000308597 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000800520 SCV000940241 benign Congenital contractural arachnodactyly 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446486 SCV002734533 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-21 criteria provided, single submitter clinical testing The p.R788H variant (also known as c.2363G>A), located in coding exon 18 of the FBN2 gene, results from a G to A substitution at nucleotide position 2363. The arginine at codon 788 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a hereditary aortopathy cohort (Renner S et al. Genet Med, 2019 08;21:1832-1841). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003318568 SCV004022659 uncertain significance not provided 2023-01-26 criteria provided, single submitter clinical testing Identified in a patient with thoracic aortic aneurysm and dissection (TAAD) who also harbored a likely pathogenic variant in the LOX gene (Renner et al., 2019); Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30675029)

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