ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)

gnomAD frequency: 0.00005  dbSNP: rs751400994
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466168 SCV000553183 likely benign Congenital contractural arachnodactyly 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV002056715 SCV002496232 uncertain significance not provided 2023-07-13 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; 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); This variant is associated with the following publications: (PMID: 19006240, 18767143)
Ambry Genetics RCV002329074 SCV002627765 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-28 criteria provided, single submitter clinical testing The p.D1443V variant (also known as c.4328A>T), located in coding exon 33 of the FBN2 gene, results from an A to T substitution at nucleotide position 4328. The aspartic acid at codon 1443 is replaced by valine, an amino acid with highly dissimilar 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323550 SCV004029369 likely benign not specified 2023-07-29 criteria provided, single submitter clinical testing

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