ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)

gnomAD frequency: 0.00001  dbSNP: rs369652475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633640 SCV000754892 likely benign Congenital contractural arachnodactyly 2022-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162815 SCV003857731 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-17 criteria provided, single submitter clinical testing The p.H1967Y variant (also known as c.5899C>T), located in coding exon 46 of the FBN2 gene, results from a C to T substitution at nucleotide position 5899. The histidine at codon 1967 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is 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.

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