ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.8290G>C (p.Glu2764Gln)

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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 RCV004818944 SCV005438939 uncertain significance Myopathy, centronuclear, 5 criteria provided, single submitter clinical testing The observed missense variant c.8290G>Cp.Glu2764Gln in the SPEG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.001% in the gnomAD Exomes. The amino acid Glu at position 2764 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism predict no damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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