ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)

gnomAD frequency: 0.00003  dbSNP: rs372206279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797083 SCV000936623 likely benign Congenital contractural arachnodactyly 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424829 SCV002679310 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-03-02 criteria provided, single submitter clinical testing The p.G2769S variant (also known as c.8305G>A), located in coding exon 64 of the FBN2 gene, results from a G to A substitution at nucleotide position 8305. The glycine at codon 2769 is replaced by serine, an amino acid with similar properties. 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 alteration remains unclear.

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