ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg)

gnomAD frequency: 0.00001  dbSNP: rs771325522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178678 SCV000230804 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765179 SCV000896414 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765179 SCV002146985 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 197604). This sequence change replaces lysine with arginine at codon 3095 of the SYNE2 protein (p.Lys3095Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs771325522, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions.

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