ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.211del (p.Leu71fs)

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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 RCV005076067 SCV005705978 pathogenic Glycogen storage disease type X 2024-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu71Trpfs*42) 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). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PGAM2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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