Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002026482 | SCV002303869 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2022-04-06 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 46 of the FKBP14 protein (p.Asp46Tyr). This variant is present in population databases (rs750062960, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FKBP14-related conditions. 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Ambry Genetics | RCV002386912 | SCV002701212 | uncertain significance | Cardiovascular phenotype | 2019-12-30 | criteria provided, single submitter | clinical testing | The p.D46Y variant (also known as c.136G>T), located in coding exon 1 of the FKBP14 gene, results from a G to T substitution at nucleotide position 136. The aspartic acid at codon 46 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |