ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)

gnomAD frequency: 0.00006  dbSNP: rs121918021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000014590 SCV002245429 pathogenic Glycogen storage disease IXb 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr419*) in the PHKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKB are known to be pathogenic (PMID: 9215682, 9326319). This variant is present in population databases (rs121918021, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 9215682). This variant is also known as Y418ter. ClinVar contains an entry for this variant (Variation ID: 13620). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014590 SCV000034844 pathogenic Glycogen storage disease IXb 1997-07-01 no assertion criteria provided literature only

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