ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.286del (p.Gln96fs)

dbSNP: rs1184002840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670074 SCV000794889 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2017-10-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670074 SCV004199898 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-07-07 criteria provided, single submitter clinical testing
Invitae RCV000670074 SCV004456195 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln96Argfs*11) 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 present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 554439). For these reasons, this variant has been classified as Pathogenic.

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