ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer)

dbSNP: rs1638575128
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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 RCV001927048 SCV002202898 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2021-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser131*) 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HMGCL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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