ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003809641 SCV004597141 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-06-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. This sequence change creates a premature translational stop signal (p.Arg63*) 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, 20673864).

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