ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.16094G>A (p.Arg5365Lys)

gnomAD frequency: 0.00002  dbSNP: rs1007733286
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340792 SCV001534620 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-06-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces arginine with lysine at codon 5365 of the SYNE2 protein (p.Arg5365Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine.

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