ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3344C>T (p.Pro1115Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004798122 SCV005419254 uncertain significance Glycogen storage disease IXa1 2024-11-06 criteria provided, single submitter clinical testing The c.3344C>T variant is not present in publicly available population databases like 1000 Genomes, EVS and Indian Exome Database. This variant is present in ExAC, gnomAD and our in-house exome database at low frequencies. This variant has neither been published in literature with PHKA2-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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