ClinVar Miner

Submissions for variant NC_000005.9:g.(?_118827775)_(118837807_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111183 SCV003793201 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-05-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-14 of the HSD17B4 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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.

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