ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)

gnomAD frequency: 0.00003  dbSNP: rs752201545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784952 SCV000923496 uncertain significance Congenital contractural arachnodactyly 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784953 SCV000923497 uncertain significance Macular degeneration, early-onset 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000784952 SCV001405952 likely benign Congenital contractural arachnodactyly 2023-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001552287 SCV001772951 uncertain significance not provided 2020-04-22 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; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 634470; Landrum et al., 2016)
Ambry Genetics RCV002442606 SCV002679921 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-07-21 criteria provided, single submitter clinical testing The p.G2866S variant (also known as c.8596G>A), located in coding exon 65 of the FBN2 gene, results from a G to A substitution at nucleotide position 8596. The glycine at codon 2866 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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.

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