ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)

gnomAD frequency: 0.00028  dbSNP: rs148493036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198722 SCV000250148 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002310781 SCV000319386 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-07-03 criteria provided, single submitter clinical testing The p.R73S variant (also known as c.217C>A), located in coding exon 1 of the FBN2 gene, results from a C to A substitution at nucleotide position 217. The arginine at codon 73 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001484140 SCV001688550 likely benign Congenital contractural arachnodactyly 2023-05-07 criteria provided, single submitter clinical testing

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