ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8167C>G (p.Pro2723Ala)

dbSNP: rs143401228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003380214 SCV004096360 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-14 criteria provided, single submitter clinical testing The p.P2723A variant (also known as c.8167C>G), located in coding exon 63 of the FBN2 gene, results from a C to G substitution at nucleotide position 8167. The proline at codon 2723 is replaced by alanine, an amino acid with highly similar properties. 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 RCV004780541 SCV005392269 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); This variant is associated with the following publications: (PMID: 19006240, 18767143)

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