ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)

gnomAD frequency: 0.00004  dbSNP: rs771467729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756445 SCV001985208 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing 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 (Callewaert et al., 2009; Frederic et al., 2009)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032763 SCV002270340 benign Congenital contractural arachnodactyly 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298960 SCV003997582 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-19 criteria provided, single submitter clinical testing The p.P1429L variant (also known as c.4286C>T), located in coding exon 33 of the FBN2 gene, results from a C to T substitution at nucleotide position 4286. The proline at codon 1429 is replaced by leucine, an amino acid with 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.

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