ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.972dup (p.Val325fs)

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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 RCV002971529 SCV003282638 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 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val325Serfs*4) in the GMPPB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the GMPPB protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 2070938). 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. For these reasons, this variant has been classified as Pathogenic.

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