ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)

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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 RCV002933216 SCV003264710 pathogenic Glycogen storage disease type X 2021-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with PGAM2-related conditions (PMID: 8447317, 27612597). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp78*) in the PGAM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PGAM2 are known to be pathogenic (PMID: 8447317, 19273759).

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