ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.3823T>C (p.Cys1275Arg)

gnomAD frequency: 0.00002  dbSNP: rs2096765246
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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 RCV001936978 SCV002218851 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-08-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 1275 of the SYNE2 protein (p.Cys1275Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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