ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)

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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 RCV002807330 SCV003196347 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-05-21 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ile60Phefs*9) in the HMGCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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