ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11071A>G (p.Lys3691Glu)

gnomAD frequency: 0.00001  dbSNP: rs147104686
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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 RCV001916367 SCV002182056 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-08-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 3691 of the SYNE2 protein (p.Lys3691Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs147104686, ExAC 0.005%). This variant has not been reported in the literature in individuals affected 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"). 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.

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