Total submissions: 2
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. |