ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.79del (p.Thr27fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003806121 SCV004593733 pathogenic DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr27Profs*34) in the DPAGT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DPAGT1 are known to be pathogenic (PMID: 22742743). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DPAGT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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