ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.478G>A (p.Val160Met)

gnomAD frequency: 0.00001  dbSNP: rs752805529
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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 RCV001226181 SCV001398483 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 2022-05-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 953830). This variant has not been reported in the literature in individuals affected with GMPPB-related conditions. This variant is present in population databases (rs752805529, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 160 of the GMPPB protein (p.Val160Met). 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: "Possibly Damaging"; Align-GVGD: "Class C0").
Revvity Omics, Revvity RCV003142186 SCV003816937 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing

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