ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.455-5_463del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004698813 SCV005200512 likely pathogenic Glycogen storage disease IXa1 2024-08-15 criteria provided, single submitter clinical testing Null variant (intronic within ±2 of splice site) in gene PHKA2. Loss-of-function is a known mechanism of disease (gene has 81 reported pathogenic LOF variants) (PVS1). Variant not found in gnomAD genomes. Variant not found in gnomAD exomes (PM2).We observed this variant in hemizygosity in a 5-year-old boy diagnosed with glycogenosis.

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