ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)

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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 RCV002646354 SCV002975228 pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency 2024-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg157*) in the HIBCH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HIBCH are known to be pathogenic (PMID: 17160907, 26163321). This variant is present in population databases (rs148693438, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with 3-hydroxyisobutryl-CoA hydrolase deficiency (PMID: 33762937). ClinVar contains an entry for this variant (Variation ID: 1938463). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003108126 SCV003761607 pathogenic not provided 2022-07-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33762937)

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