ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)

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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 RCV002667891 SCV002980482 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 2022-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GMPPB protein in which other variant(s) (p.Arg357His) have been determined to be pathogenic (PMID: 28433477, 33756069). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with GMPPB-related conditions. This variant is present in population databases (rs769459081, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser352*) in the GMPPB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the GMPPB protein.

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