ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)

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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 RCV002280319 SCV005702430 pathogenic Glycogen storage disease IXa1 2024-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg298*) in the PHKA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKA2 are known to be pathogenic (PMID: 7711737, 10330341). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with X-linked recessive glycogen storage disease type IX (GSD IX) (PMID: 31832499). ClinVar contains an entry for this variant (Variation ID: 1703196). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
QSNICH Molecular Lab, Queen Sirikit National Institute of Child Health RCV002280319 SCV002559895 likely pathogenic Glycogen storage disease IXa1 2022-07-13 no assertion criteria provided clinical testing

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