ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.573_577del (p.Gln191fs)

dbSNP: rs1233197046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243545 SCV002512214 pathogenic Glycogen storage disease IXb 2021-06-21 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM3 moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV002243545 SCV003443550 pathogenic Glycogen storage disease IXb 2024-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln191Hisfs*5) 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 (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 21646031, 31508908). This variant is also known as c.572_576delAGATT. ClinVar contains an entry for this variant (Variation ID: 1683502). For these reasons, this variant has been classified as Pathogenic.

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