ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.2465del (p.Leu822fs)

dbSNP: rs1569298646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701470 SCV000830272 pathogenic Glycogen storage disease IXa1 2018-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu822Argfs*92) in the PHKA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PHKA2-related disease. Loss-of-function variants in PHKA2 are known to be pathogenic (PMID: 7711737, 10330341). For these reasons, this variant has been classified as Pathogenic.

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