ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152988 SCV003841627 uncertain significance Glycogen storage disease IXa1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.73; 3Cnet: 0.44). A different missense change at the same codon (p.Glu1112Lys) has been reported to be associated with PHKA2-related disorder (PMID: 31248825). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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