ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)

dbSNP: rs1274176298
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387539 SCV001588203 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr107Profs*48) 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 0.01%). This premature translational stop signal has been observed in individual(s) with HMG-CoA lyase deficiency (PMID: 28583327). ClinVar contains an entry for this variant (Variation ID: 1074299). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001387539 SCV004199899 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001387539 SCV005647153 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831397 SCV002094166 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-02-01 no assertion criteria provided clinical testing

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