ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.769del (p.Asp257fs)

dbSNP: rs2148417048
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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 RCV001782255 SCV003228628 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-08-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1324535). 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. This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This sequence change creates a premature translational stop signal (p.Asp257Thrfs*29) in the HMGCL gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the HMGCL protein. This variant is not present in population databases (gnomAD no frequency).

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