ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)

gnomAD frequency: 0.00017  dbSNP: rs150672907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800017 SCV000939714 likely benign Congenital contractural arachnodactyly 2024-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397607 SCV002674427 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-04-26 criteria provided, single submitter clinical testing The p.T2567I variant (also known as c.7700C>T), located in coding exon 60 of the FBN2 gene, results from a C to T substitution at nucleotide position 7700. The threonine at codon 2567 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000800017 SCV001192747 uncertain significance Congenital contractural arachnodactyly 2019-06-25 no assertion criteria provided clinical testing

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