ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)

gnomAD frequency: 0.00003  dbSNP: rs995323393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633609 SCV000754855 benign Congenital contractural arachnodactyly 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358774 SCV002657592 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-08-09 criteria provided, single submitter clinical testing The p.E2003K variant (also known as c.6007G>A), located in coding exon 47 of the FBN2 gene, results from a G to A substitution at nucleotide position 6007. The glutamic acid at codon 2003 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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 alteration remains unclear.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264672 SCV001442871 likely benign Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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