ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)

dbSNP: rs2126740316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001951440 SCV002239681 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2021-04-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn233Lysfs*6) 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 with HSD17B4-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002307818 SCV002601864 likely pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 2022-03-08 criteria provided, single submitter clinical testing NM_000414.3(HSD17B4):c.698dupA(N233Kfs*6) is expected to be pathogenic in the context of D-bifunctional protein deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HSD17B4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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