ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)

dbSNP: rs2126814260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782268 SCV002016636 likely pathogenic not provided 2021-09-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464141 SCV004192390 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772152 SCV004588725 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-08-10 criteria provided, single submitter clinical testing 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 variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe462Serfs*24) 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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