ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.610del (p.Asp204fs)

dbSNP: rs2148419170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001923989 SCV002199364 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2022-04-08 criteria provided, single submitter clinical testing 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 variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp204Thrfs*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).
Baylor Genetics RCV001923989 SCV004199881 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-10-31 criteria provided, single submitter clinical testing

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