ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter)

dbSNP: rs2148424154
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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 RCV001972669 SCV002246416 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2021-10-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individuals with 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (PMID: 19177531, 20532825, 25872961). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp81*) 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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