ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)

gnomAD frequency: 0.00026  dbSNP: rs139035999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198286 SCV000250171 uncertain significance not provided 2023-06-20 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 does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; 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)
Ambry Genetics RCV003243015 SCV000318739 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-03 criteria provided, single submitter clinical testing The p.S884T variant (also known as c.2651G>C), located in coding exon 20 of the FBN2 gene, results from a G to C substitution at nucleotide position 2651. The serine at codon 884 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001316692 SCV001507323 likely benign Congenital contractural arachnodactyly 2023-07-26 criteria provided, single submitter clinical testing

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