ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12608A>T (p.Glu4203Val)

gnomAD frequency: 0.00002  dbSNP: rs949678604
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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 RCV001347596 SCV001541866 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNE2-related conditions. This sequence change replaces glutamic acid with valine at codon 4203 of the SYNE2 protein (p.Glu4203Val). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). 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 valine 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 and their clinical significance is uncertain. 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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