ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)

dbSNP: rs1554068426
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670247 SCV000795078 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387832 SCV001588552 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2020-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 with HSD17B4-related conditions. ClinVar contains an entry for this variant (Variation ID: 554583). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg583Asnfs*31) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product.

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