ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)

dbSNP: rs763971677
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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 RCV000692931 SCV000820782 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 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln264*) 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 present in population databases (rs763971677, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with GMPPB-related conditions (PMID: 25770200). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 571713). For these reasons, this variant has been classified as Pathogenic.

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