ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) (rs1270523244)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700365 SCV000829117 pathogenic Glycogen storage disease IXc 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg185*) in the PHKG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with glycogen storage disease (PMID: 29360628). Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV001250204 SCV001424473 pathogenic Glycogen storage disease type IXc criteria provided, single submitter clinical testing

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