ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239446 SCV001412321 pathogenic Congenital disorder of glycosylation type 1t 2019-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln53Glyfs*15) in the PGM1 gene. It is expected to result in an absent or disrupted protein product. This variant is reported as two separate entries in the ExAC population database (c.157del, ExAC no frequency and c.158A>G, ExAC 0.02%). This variant has been observed in an individual affected with PGM1-CDG (PMID: 28617415). 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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