ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)

dbSNP: rs1567261757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002857514 SCV003226314 pathogenic Glycogen storage disease IXc 2022-07-30 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys112Glufs*29) in the PHKG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). This variant has not been reported in the literature in individuals affected with PHKG2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002857514 SCV005645749 likely pathogenic Glycogen storage disease IXc 2024-06-17 criteria provided, single submitter clinical testing

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