ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1270523244
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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 RCV000700365 SCV000829117 pathogenic Glycogen storage disease IXc 2024-01-28 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. Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 29360628). ClinVar contains an entry for this variant (Variation ID: 577568). 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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