ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.374_375del (p.Val125fs)

dbSNP: rs1638575413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215701 SCV001387460 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2019-08-17 criteria provided, single submitter clinical testing Loss-of-function variants in HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862). This sequence change creates a premature translational stop signal (p.Val125Aspfs*26) in the HMGCL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another HMGCL variant in individuals affected with HMG-CoA lyase deficiency (PMID: 17628222, 28583327). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001215701 SCV005059698 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-11-15 criteria provided, single submitter clinical testing

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