ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.7147A>G (p.Thr2383Ala)

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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 RCV004720671 SCV005329511 uncertain significance Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.7147A>G (p.Thr2383Ala) in the SYNE2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in the gnomAD Exomes. The amino acid Threonine at position 2383 is changed to a Alanine changing protein sequence and it might alter its composition and physico- chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Thr2383Ala in SYNE2 is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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