ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.866del (p.Gly289fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476435 SCV004199905 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003476435 SCV004389454 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly289Alafs*6) in the HMGCL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 37 amino acid(s) of the HMGCL protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. 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. For these reasons, this variant has been classified as Pathogenic.

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