ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)

dbSNP: rs727504642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155904 SCV000205615 uncertain significance not specified 2016-09-16 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV002313003 SCV000738905 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-06-07 criteria provided, single submitter clinical testing The p.G1987R variant (also known as c.5959G>C), located in coding exon 48 of the FBN1 gene, results from a G to C substitution at nucleotide position 5959. The glycine at codon 1987 is replaced by arginine, an amino acid with dissimilar properties, and is located in the cbEGF-like #30 domain. This alteration has been reported in an individual with Marfan syndrome (Comeglio P et al. Hum. Mutat., 2001 Dec;18:546-7). Additionally, based on internal structural assessment, this alteration results in the structural distortion of the cbEGF-like #30 domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269653 SCV001449795 pathogenic not provided 2014-10-23 criteria provided, single submitter clinical testing

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