ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) (rs770066171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727046 SCV000705138 pathogenic not provided 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV000596556 SCV000824171 pathogenic Congenital disorder of glycosylation type 1t 2018-02-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg217*) in the PGM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770066171, ExAC 0.006%). This variant has not been reported in the literature in individuals with PGM1-related disease. Loss-of-function variants in PGM1 are known to be pathogenic (PMID: 22492991). For these reasons, this variant has been classified as Pathogenic.

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