ClinVar Miner

Submissions for variant NC_000001.10:g.(?_24132578)_(24134831_?)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 RCV004583958 SCV005065073 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the HMGCL gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with HMG-CoA lyase deficiency (PMID: 11129331). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HMGCL protein in which other variant(s) (p.His233Arg) have been determined to be pathogenic (PMID: 8798725, 9784232, 14518825, 16330550). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies have shown that a similar copy number variant affects HMGCL function (PMID: 11129331). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.

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