ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)

gnomAD frequency: 0.00001  dbSNP: rs375063162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218555 SCV001390443 pathogenic Glycogen storage disease IXc 2023-07-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with phosphorylase kinase deficiency (PMID: 24389071). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 947470). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu8*) 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).
Mendelics RCV001218555 SCV002518846 pathogenic Glycogen storage disease IXc 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001218555 SCV005645748 pathogenic Glycogen storage disease IXc 2024-03-18 criteria provided, single submitter clinical testing

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