Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042941 | SCV001206650 | uncertain significance | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2021-10-14 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the HSD17B4 gene. It does not directly change the encoded amino acid sequence of the HSD17B4 protein. This variant is present in population databases (rs767897278, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of D-bifunctional protein deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. |