ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)

gnomAD frequency: 0.00001  dbSNP: rs757976755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000170481 SCV000756679 uncertain significance Beta-hydroxyisobutyryl-CoA deacylase deficiency 2018-02-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported as homozygous in an individual affected with 3-Hydroxyisobutryl-CoA hydrolase deficiency (PMID: 26026795). ClinVar contains an entry for this variant (Variation ID: 190268). This variant is present in population databases (rs757976755, ExAC 0.003%). This sequence change replaces arginine with tryptophan at codon 66 of the HIBCH protein (p.Arg66Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Bonnen Lab, Baylor College of Medicine RCV000170481 SCV000196891 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2014-12-30 no assertion criteria provided research Decreased HIBCH enzymatic activity in fibroblasts.
OMIM RCV000170481 SCV000245423 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2015-08-01 no assertion criteria provided literature only

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