Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001964766 | SCV002202849 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with aspartic acid at codon 307 of the CHST14 protein (p.Asn307Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs767533841, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CHST14-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 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. |
| Ambry Genetics | RCV002370545 | SCV002685779 | uncertain significance | Cardiovascular phenotype | 2021-05-20 | criteria provided, single submitter | clinical testing | The p.N307D variant (also known as c.919A>G), located in coding exon 1 of the CHST14 gene, results from an A to G substitution at nucleotide position 919. The asparagine at codon 307 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and aspartic acid is the reference amino acid in other vertebrate species. 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. |