ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter)

gnomAD frequency: 0.00001  dbSNP: rs1450937339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037880 SCV002235720 pathogenic Glycogen storage disease IXc 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg76*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of liver phosphorylase kinase deficiency (PMID: 32697758). ClinVar contains an entry for this variant (Variation ID: 1453300). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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