ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg)

dbSNP: rs2153635602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823608 SCV002073178 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant criteria provided, single submitter clinical testing The missense variant p.L4056R in SYNE2 (NM_182914.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L4056R variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between leucine and arginine. The p.L4056R missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.12167 in SYNE2 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Revvity Omics, Revvity RCV001823608 SCV003818259 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-04-28 criteria provided, single submitter clinical testing

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