ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.369_370del (p.Gly124fs)

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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 RCV003514668 SCV004244963 pathogenic Glycogen storage disease IXb 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly124Asnfs*11) in the PHKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKB are known to be pathogenic (PMID: 9215682, 9326319). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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