ClinVar Miner

Submissions for variant NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003867533 SCV004674410 pathogenic Glycogen storage disease IXd 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp130*) in the PHKA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKA1 are known to be pathogenic (PMID: 9731190, 15637709). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PHKA1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003867533 SCV005678843 likely pathogenic Glycogen storage disease IXd 2024-03-29 criteria provided, single submitter clinical testing

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