ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.521A>G (p.Lys174Arg) (rs139238702)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193493 SCV000249092 uncertain significance not specified 2014-10-02 criteria provided, single submitter clinical testing
Invitae RCV000556513 SCV000648952 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2017-03-29 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 174 of the SYNE2 protein (p.Lys174Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs139238702, ExAC 0.1%) but has not been reported in the literature in individuals with a SYNE2-related disease. ClinVar contains an entry for this variant (Variation ID: 212345). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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