ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.741C>T (p.Gly247=)

dbSNP: rs2108211246
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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 RCV001933830 SCV002200716 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 2022-02-08 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with GMPPB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 247 of the GMPPB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GMPPB protein.

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