ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)

gnomAD frequency: 0.00001  dbSNP: rs745993071
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253738 SCV001429596 likely pathogenic PGM1-congenital disorder of glycosylation 2019-02-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001253738 SCV001554496 pathogenic PGM1-congenital disorder of glycosylation criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001253738 SCV003523300 pathogenic PGM1-congenital disorder of glycosylation 2022-09-30 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: 976429). This premature translational stop signal has been observed in individual(s) with phosphoglucomutase deficiency (PMID: 24499211). This variant is present in population databases (rs745993071, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg499*) 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).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001253738 SCV005415646 pathogenic PGM1-congenital disorder of glycosylation criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Supporting+PP4

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