ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.369dup (p.Val124fs)

dbSNP: rs1788795866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209728 SCV001381175 pathogenic Immunodeficiency 23 2019-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val152Serfs*4) in the PGM3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PGM3-related conditions. Loss-of-function variants in PGM3 are known to be pathogenic (PMID: 17548465, 24589341, 24931394). For these reasons, this variant has been classified as Pathogenic.

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