ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg)

gnomAD frequency: 0.00001  dbSNP: rs771294384
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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 RCV001909330 SCV002180869 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-21 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. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs771294384, ExAC 0.01%). This sequence change replaces glutamine with arginine at codon 3889 of the SYNE1 protein (p.Gln3889Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.

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