ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln)

gnomAD frequency: 0.00014  dbSNP: rs144040971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056881 SCV001221346 uncertain significance 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 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 296 of the GMPPB protein (p.Arg296Gln). This variant is present in population databases (rs144040971, gnomAD 0.05%). 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: 852301). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GMPPB protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001593229 SCV001822670 uncertain significance not provided 2024-08-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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