ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340706 SCV004047364 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2T criteria provided, single submitter clinical testing The missense variant c.297G>C (p.Glu99Asp) in GMPPB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has not been reported to the ClinVar database. The p.Glu99Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Glu at position 99 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS)

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