Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000702600 | SCV000831459 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2024-02-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 290 of the CHST14 protein (p.Ala290Val). This variant is present in population databases (rs763074027, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. ClinVar contains an entry for this variant (Variation ID: 579344). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHST14 protein function with a negative predictive value of 80%. 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 | RCV002369938 | SCV002685220 | uncertain significance | Cardiovascular phenotype | 2024-11-17 | criteria provided, single submitter | clinical testing | The p.A290V variant (also known as c.869C>T), located in coding exon 1 of the CHST14 gene, results from a C to T substitution at nucleotide position 869. The alanine at codon 290 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |