ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)

gnomAD frequency: 0.00010  dbSNP: rs145681607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197133 SCV000250233 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002310789 SCV000319348 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-19 criteria provided, single submitter clinical testing The c.6681A>G variant (also known as p.T2227T), located in coding exon 53, results from an A to G substitution at nucleotide position 6681 of the FBN2 gene. This nucleotide substitution does not change the amino acid at codon 2227. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to significantly strengthen an alternate splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002515359 SCV003278828 benign Congenital contractural arachnodactyly 2023-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230446 SCV003929266 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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