Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000412741 | SCV000490531 | uncertain significance | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | The G530W variant in the FLNB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G530W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G530W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G530W as a variant of uncertain significance. |
Labcorp Genetics |
RCV000412741 | SCV001515039 | likely benign | not provided | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480263 | SCV002779062 | uncertain significance | Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523908 | SCV003681198 | uncertain significance | Inborn genetic diseases | 2022-09-28 | criteria provided, single submitter | clinical testing | The c.1588G>T (p.G530W) alteration is located in exon 10 (coding exon 10) of the FLNB gene. This alteration results from a G to T substitution at nucleotide position 1588, causing the glycine (G) at amino acid position 530 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |