ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)

dbSNP: rs2147806873
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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 RCV001383641 SCV001582861 pathogenic Glycogen storage disease IXa1 2020-03-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1109Argfs*5) in the PHKA2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PHKA2-related conditions. 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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