ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.563_564del (p.Leu187_Ser188insTer)

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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 RCV003747511 SCV004534171 pathogenic Immunodeficiency 23 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser216*) in the PGM3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PGM3 are known to be pathogenic (PMID: 17548465, 24589341, 24931394). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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