Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795032 | SCV000934472 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2018-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with tyrosine at codon 53 of the CHST14 protein (p.Ser53Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CHST14-related disease. 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 C15"). 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. |