ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)

dbSNP: rs890995574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673631 SCV000798857 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000673631 SCV003523183 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln96*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with HMG-CoA lyase deficiency (PMID: 11461194). ClinVar contains an entry for this variant (Variation ID: 557482). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000673631 SCV004172659 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing

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