Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002330110 | SCV002630049 | uncertain significance | Cardiovascular phenotype | 2021-06-22 | criteria provided, single submitter | clinical testing | The p.V143I variant (also known as c.427G>A), located in coding exon 1 of the CHST14 gene, results from a G to A substitution at nucleotide position 427. The valine at codon 143 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |
Invitae | RCV003094622 | SCV003246879 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-05-30 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. 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. This variant has not been reported in the literature in individuals affected with CHST14-related conditions. This variant is present in population databases (rs550038340, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 143 of the CHST14 protein (p.Val143Ile). |