ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.270del (p.Phe90fs)

dbSNP: rs1276397342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665075 SCV000789134 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2017-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861740 SCV002163552 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe90Leufs*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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550351). 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).
Baylor Genetics RCV000665075 SCV004192405 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-11-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480748 SCV004226558 likely pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing PM2, PVS1

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