Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383665 | SCV001582885 | pathogenic | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2020-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn500Ilefs*24) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454). This variant has not been reported in the literature in individuals with HSD17B4-related conditions. |