ClinVar Miner

Submissions for variant NC_000001.10:g.(?_24140670)_(24140838_?)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 RCV001956535 SCV002244439 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the HMGCL 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 HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862).

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