ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)

dbSNP: rs2126790164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969747 SCV002221799 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1441941). 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.Glu412Argfs*4) 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).
Baylor Genetics RCV003464273 SCV004192374 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-10-05 criteria provided, single submitter clinical testing

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