Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246239 | SCV001419580 | uncertain significance | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2021-11-09 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 518 of the HSD17B4 protein (p.Pro518Ser). This variant is present in population databases (rs757297524, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. ClinVar contains an entry for this variant (Variation ID: 970634). 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: "Possibly 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. |
Natera, |
RCV001835260 | SCV002075418 | uncertain significance | Bifunctional peroxisomal enzyme deficiency | 2020-09-02 | no assertion criteria provided | clinical testing |