ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.129dup (p.Gly44fs)

dbSNP: rs767597690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001657966 SCV001873979 likely pathogenic not provided 2021-03-31 criteria provided, single submitter clinical testing Observed with a second variant in the HIBCH gene on the opposite allele (in trans) in a patient with developmental delay, hypotonia, and cerebral atrophy in the published literature (Peters et al., 2015); Frameshift 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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26163321)
OMIM RCV000190537 SCV000245424 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2015-08-01 no assertion criteria provided literature only

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