ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)

dbSNP: rs1057517323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410124 SCV000487103 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802983 SCV000942835 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu545Cysfs*8) in the HSD17B4 gene. It is expected to result in an absent or disrupted protein product. 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: 371505). This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV000410124 SCV004192426 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2022-09-16 criteria provided, single submitter clinical testing

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