Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002999717 | SCV003302806 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-01-16 | criteria provided, single submitter | clinical testing | 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. 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. This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 339 of the CHST14 protein (p.His339Arg). |
| Ambry Genetics | RCV004068500 | SCV005030362 | uncertain significance | Cardiovascular phenotype | 2024-03-13 | criteria provided, single submitter | clinical testing | The p.H339R variant (also known as c.1016A>G), located in coding exon 1 of the CHST14 gene, results from an A to G substitution at nucleotide position 1016. The histidine at codon 339 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |