ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)

dbSNP: rs1348189028
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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 RCV000801856 SCV000941654 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 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln37*) in the GMPPB 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 GMPPB-related conditions. Loss-of-function variants in GMPPB are known to be pathogenic (PMID: 23768512, 26310427). For these reasons, this variant has been classified as Pathogenic.

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