ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)

dbSNP: rs772912966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250205 SCV001424474 likely pathogenic Glycogen storage disease type IXc criteria provided, single submitter clinical testing
Invitae RCV003770291 SCV004611955 pathogenic Glycogen storage disease IXc 2023-01-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 973563). This premature translational stop signal has been observed in individual(s) with clinical features of PHKG2-related conditions (PMID: 31508908, 32697758). This variant is present in population databases (rs772912966, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg152*) 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).

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