ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)

gnomAD frequency: 0.00002  dbSNP: rs886038992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310933 SCV000319542 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-26 criteria provided, single submitter clinical testing The p.R2330K variant (also known as c.6989G>A), located in coding exon 55 of the FBN2 gene, results from a G to A substitution at nucleotide position 6989. The arginine at codon 2330 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well 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 variant remains unclear.
Invitae RCV001859454 SCV002130581 benign Congenital contractural arachnodactyly 2022-03-18 criteria provided, single submitter clinical testing

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