ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)

dbSNP: rs1057516936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410138 SCV000486459 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2016-06-03 criteria provided, single submitter clinical testing
Invitae RCV001053495 SCV001217761 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-09-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu573Thrfs*3) 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). 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. ClinVar contains an entry for this variant (Variation ID: 371008).

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