ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596674 SCV005088755 pathogenic Glycogen storage disease IXa1 2021-12-08 criteria provided, single submitter clinical testing This variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, several other nonsense variants lying downstream of the variant, have been previously reported as pathogenic in the ClinVar database context of glycogen storage disease type IXa1. Loss-of-function variants in PHKA2 are known to be pathogenic [PMID: 7711737, 10330341].

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