Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410138 | SCV000486459 | likely pathogenic | Bifunctional peroxisomal enzyme deficiency | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001053495 | SCV001217761 | pathogenic | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2022-09-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu573Thrfs*3) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. 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 affected with HSD17B4-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371008). |