Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598134 | SCV000707507 | uncertain significance | not provided | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001300844 | SCV001489994 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 133 of the CHST14 protein (p.Gln133Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). 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: 501222). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Genome Diagnostics Laboratory, |
RCV002279383 | SCV002565417 | uncertain significance | Ehlers-Danlos syndrome | 2018-08-07 | criteria provided, single submitter | clinical testing |