ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.751-5_751-2del

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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 RCV002580267 SCV002930781 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HIBCH-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the HIBCH gene. It does not directly change the encoded amino acid sequence of the HIBCH protein.

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