ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.809G>A (p.Arg270His)

dbSNP: rs148971572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200299 SCV000250318 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088333 SCV000563021 likely benign Congenital contractural arachnodactyly 2024-12-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818465 SCV002072404 uncertain significance not specified 2019-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298254 SCV003997583 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-01 criteria provided, single submitter clinical testing The p.R270H variant (also known as c.809G>A), located in coding exon 6 of the FBN2 gene, results from a G to A substitution at nucleotide position 809. The arginine at codon 270 is replaced by histidine, an amino acid with highly similar 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 RCV001818465 SCV004813893 likely benign not specified 2024-02-19 criteria provided, single submitter clinical testing

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