ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)

dbSNP: rs1395363276
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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 RCV003859741 SCV004661276 pathogenic Glycogen storage disease IXc 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln284*) 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 is not present in population databases (gnomAD no frequency). 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.

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