ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)

dbSNP: rs2521441229
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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 RCV003029112 SCV003326559 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-03-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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.Lys136Argfs*20) 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).

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