ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.923T>G (p.Val308Gly)

dbSNP: rs750488885
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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 RCV001938405 SCV002195456 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 2022-08-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1417485). This variant has not been reported in the literature in individuals affected with GMPPB-related conditions. This variant is present in population databases (rs750488885, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 308 of the GMPPB protein (p.Val308Gly).

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