Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000513271 | SCV000250286 | uncertain significance | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; At the protein level, in silico analysis supports that this missense variant has a deleterious effect on protein structure/function; At the mRNA level, in silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); This variant is associated with the following publications: (PMID: 19006240, 18767143) |
Invitae | RCV000472155 | SCV000553192 | likely benign | Congenital contractural arachnodactyly | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000513271 | SCV000609174 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315591 | SCV000739037 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-05-19 | criteria provided, single submitter | clinical testing | The p.S1280L variant (also known as c.3839C>T), located in coding exon 29 of the FBN2 gene, results from a C to T substitution at nucleotide position 3839. The serine at codon 1280 is replaced by leucine, an amino acid with dissimilar properties, and is located in the cbEGF-like #17 domain. 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. |
Genome Diagnostics Laboratory, |
RCV002277534 | SCV002566574 | uncertain significance | Connective tissue disorder | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000513271 | SCV000840353 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |