ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20284T>C (p.Cys6762Arg)

gnomAD frequency: 0.00001  dbSNP: rs1444525177
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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 RCV001823690 SCV002073317 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant criteria provided, single submitter clinical testing The missense variant p.C6762R in SYNE2 (NM_182914.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.C6762R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between cysteine and arginine, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico tools are contradictory in their predictions (SIFT-damaging, Polyphen-2-tolerated) and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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