ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)

dbSNP: rs1057516672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410199 SCV000486047 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2016-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861374 SCV002206080 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2023-01-13 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: 370669). This premature translational stop signal has been observed in individual(s) with D-bifunctional protein deficiency (PMID: 23100014). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn99Lysfs*12) 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).
Mayo Clinic Laboratories, Mayo Clinic RCV000676074 SCV000801809 likely pathogenic not provided 2018-02-07 no assertion criteria provided clinical testing

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