ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1234G>A (p.Glu412Lys)

gnomAD frequency: 0.00001  dbSNP: rs962522833
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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 RCV002313297 SCV000738966 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-04-18 criteria provided, single submitter clinical testing The p.E412K variant (also known as c.1234G>A), located in coding exon 10 of the FBN2 gene, results from a G to A substitution at nucleotide position 1234. The glutamic acid at codon 412 is replaced by lysine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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.
GeneDx RCV004800493 SCV005421625 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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