ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.349_361del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002880465 SCV003230202 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val117Profs*4) 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).
Baylor Genetics RCV002880465 SCV004199908 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2021-12-08 criteria provided, single submitter clinical testing
Dr.Nikuei Genetic Center RCV002880465 SCV005200333 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2024-07-10 criteria provided, single submitter clinical testing

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