ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1422dup (p.Glu475Ter)

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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 RCV005196982 SCV005845748 pathogenic PGM1-congenital disorder of glycosylation 2024-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu475*) in the PGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PGM1 are known to be pathogenic (PMID: 22492991). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PGM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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