ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.609del (p.Gly204fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810904 SCV000951142 pathogenic Beta-hydroxyisobutyryl-CoA deacylase deficiency 2018-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly204Glufs*14) in the HIBCH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776592661, ExAC 0.001%). This variant has not been reported in the literature in individuals with HIBCH-related disease. Loss-of-function variants in HIBCH are known to be pathogenic (PMID: 17160907, 26163321). For these reasons, this variant has been classified as Pathogenic.

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