Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001782266 | SCV002016632 | likely pathogenic | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541199 | SCV003238333 | pathogenic | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2022-09-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1324546). Disruption of this splice site has been observed in individual(s) with D-bifunctional protein deficiency (PMID: 11810648). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the HSD17B4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in HSD17B4 are known to be pathogenic (PMID: 11810648, 16385454). |