ClinVar Miner

Submissions for variant NC_000001.10:g.(?_24127494)_(24130949_?)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 RCV004583962 SCV005065076 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-06-29 criteria provided, single submitter clinical testing 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.Phe305Tyrfs*10) have been determined to be pathogenic (PMID: 2443756, 6085636, 9463337). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant results in the deletion of exon 9 and part of exon 8 (c.817_*1459del) of the HMGCL gene. 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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