ClinVar Miner

Submissions for variant NC_000005.9:g.(?_118842493)_(118844959_?)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 RCV004578964 SCV005062955 pathogenic Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2024-01-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-16 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, 20673864). This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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