ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser)

gnomAD frequency: 0.00002  dbSNP: rs753014812
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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 RCV001036803 SCV001200186 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 2021-09-17 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with clinical features of GMPPB-related conditions (Invitae). This variant is present in population databases (rs753014812, ExAC 0.01%). This sequence change replaces asparagine with serine at codon 339 of the GMPPB protein (p.Asn339Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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