Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303689 | SCV001492942 | uncertain significance | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with serine at codon 189 of the HSD17B4 protein (p.Cys189Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs372914814, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with HSD17B4-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. |
Natera, |
RCV001830200 | SCV002075400 | uncertain significance | Bifunctional peroxisomal enzyme deficiency | 2020-01-17 | no assertion criteria provided | clinical testing |