ClinVar Miner

Submissions for variant NC_000005.9:g.(?_118877580)_(118877689_?)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 RCV003111182 SCV003793200 uncertain significance Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 2022-02-22 criteria provided, single submitter clinical testing This variant disrupts a region of the HSD17B4 protein in which other variant(s) (p.Leu736His) have been observed in individuals with HSD17B4-related conditions (PMID: 20681997). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with HSD17B4-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 24 of the HSD17B4 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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