ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)

dbSNP: rs112508527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673585 SCV000798805 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2018-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673585 SCV004199909 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2021-11-30 criteria provided, single submitter clinical testing
Invitae RCV000673585 SCV004511718 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr176*) 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 (rs112508527, gnomAD 0.008%). 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: 557442). For these reasons, this variant has been classified as Pathogenic.

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