Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001921296 | SCV002202014 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2022-02-03 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FKBP14-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 6 of the FKBP14 protein (p.Trp6Gly). |
| Ambry Genetics | RCV003375453 | SCV004095109 | uncertain significance | Cardiovascular phenotype | 2023-09-06 | criteria provided, single submitter | clinical testing | The p.W6G variant (also known as c.16T>G), located in coding exon 1 of the FKBP14 gene, results from a T to G substitution at nucleotide position 16. The tryptophan at codon 6 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |