ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)

dbSNP: rs1559697183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760617 SCV000890509 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The Q164X variant in the GMPPB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q164X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q164X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005213382 SCV005861300 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 2024-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln164*) in the GMPPB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GMPPB are known to be pathogenic (PMID: 23768512, 26310427). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GMPPB-related conditions. ClinVar contains an entry for this variant (Variation ID: 620253). For these reasons, this variant has been classified as Pathogenic.

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