ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1354_1358del (p.Leu452fs)

dbSNP: rs587777414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000119829 SCV000815330 pathogenic Immunodeficiency 23 2023-07-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 133317). This premature translational stop signal has been observed in individual(s) with PGM3-congenital disorder of glycosylation (CDG) (PMID: 24589341). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587777414, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu480Serfs*10) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000119829 SCV000154755 pathogenic Immunodeficiency 23 2014-05-01 no assertion criteria provided literature only

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