ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter)

dbSNP: rs1556007472
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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 RCV000631193 SCV000752206 pathogenic Glycogen storage disease IXa1 2023-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 526624). This premature translational stop signal has been observed in individual(s) with X-linked liver glycogenosis (PMID: 9600238). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg352*) in the PHKA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKA2 are known to be pathogenic (PMID: 7711737, 10330341).

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