ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.331G>A (p.Val111Met)

dbSNP: rs141201072
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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 RCV000550887 SCV000653751 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 2023-06-29 criteria provided, single submitter clinical testing 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. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 111 of the GMPPB protein (p.Val111Met). This variant is present in population databases (rs141201072, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of GMPPB-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 474015). 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.

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