ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter)

gnomAD frequency: 0.00001  dbSNP: rs748262135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760570 SCV000890461 likely pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing The Q909X variant in the PHKB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q909X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q909X as a likely pathogenic variant.
Invitae RCV003626639 SCV004475792 pathogenic Glycogen storage disease IXb 2023-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln909*) 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 present in population databases (rs748262135, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 620209). For these reasons, this variant has been classified as Pathogenic.

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