ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.784C>T (p.Gln262Ter)

dbSNP: rs1293351659
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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 RCV001383959 SCV001583288 pathogenic Immunodeficiency 23 2023-03-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071477). This variant has not been reported in the literature in individuals affected with PGM3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln290*) 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).

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