ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)

dbSNP: rs1553691975
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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 RCV000527021 SCV000653752 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 2022-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe123Serfs*14) 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: 474016). For these reasons, this variant has been classified as Pathogenic.

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