ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)

gnomAD frequency: 0.00012  dbSNP: rs141707850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198915 SCV000250303 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Does not occur within a calcium-binding-EGF-like domain (Callewaert et al., 2009, Frederic et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000474999 SCV000553170 likely benign Congenital contractural arachnodactyly 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363008 SCV002661128 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-31 criteria provided, single submitter clinical testing The p.K2112E variant (also known as c.6334A>G), located in coding exon 50 of the FBN2 gene, results from an A to G substitution at nucleotide position 6334. The lysine at codon 2112 is replaced by glutamic acid, an amino acid with similar properties, and is located in the TGFB #06 domain. This amino acid position is well 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.

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