ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)

gnomAD frequency: 0.00002  dbSNP: rs749907917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228916 SCV001401344 likely benign Congenital contractural arachnodactyly 2023-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264237 SCV002545344 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356980 SCV002647427 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-11-12 criteria provided, single submitter clinical testing The p.R1940Q variant (also known as c.5819G>A), located in coding exon 46 of the FBN2 gene, results from a G to A substitution at nucleotide position 5819. The arginine at codon 1940 is replaced by glutamine, an amino acid with highly similar properties, and is located in the cbEGF-like #29 domain. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other 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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