ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.294dup (p.Glu99Ter)

gnomAD frequency: 0.00001  dbSNP: rs1365085828
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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 RCV001384680 SCV001584252 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 2020-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GMPPB are known to be pathogenic (PMID: 23768512, 26310427). This variant has not been reported in the literature in individuals with GMPPB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu99*) in the GMPPB gene. It is expected to result in an absent or disrupted protein product.

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