ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.137dup (p.Asn46fs)

dbSNP: rs1638698938
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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 RCV001058263 SCV001222821 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2021-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with 3-hydroxy-3-methylglutaryl CoA lyase deficiency (PMID: 7479590). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 853456). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn46Lysfs*2) 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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