ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)

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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 RCV003812921 SCV004611043 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu531*) 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). This variant is not present in population databases (gnomAD no frequency). 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.

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