ClinVar Miner

Submissions for variant NC_000004.11:g.(?_108911089)_(108911240_?)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 RCV004580761 SCV005064785 pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-09-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the HADH gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADH are known to be pathogenic (PMID: 8825408). For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with hyperinsulinemic hypoglycemia (PMID: 21252247).

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