ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)

gnomAD frequency: 0.00001  dbSNP: rs138429045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310916 SCV000319479 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-12-11 criteria provided, single submitter clinical testing The p.A926D variant (also known as c.2777C>A), located in coding exon 21 of the FBN2 gene, results from a C to A substitution at nucleotide position 2777. The alanine at codon 926 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is not 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659607 SCV000781446 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001315396 SCV001505967 likely benign Congenital contractural arachnodactyly 2023-11-19 criteria provided, single submitter clinical testing

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