ClinVar Miner

Submissions for variant NC_000016.10:g.(?_47669195)_(47669437_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708029 SCV000837139 pathogenic Glycogen storage disease IXb 2019-06-19 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 26 of the PHKB gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PHKB-related disease. Loss-of-function variants in PHKB are known to be pathogenic (PMID: 9215682, 9326319). For these reasons, this variant has been classified as Pathogenic.

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