ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser)

gnomAD frequency: 0.00003  dbSNP: rs369568420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311140 SCV000320223 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-08-30 criteria provided, single submitter clinical testing The p.G2627S variant (also known as c.7879G>A), located in coding exon 62 of the FBN2 gene, results from a G to A substitution at nucleotide position 7879. The glycine at codon 2627 is replaced by serine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs369568420. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. This amino acid position is highly 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.

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