ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)

dbSNP: rs886042413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359361 SCV000334009 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
Invitae RCV003765595 SCV004567776 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-01-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 5749 of the SYNE1 protein (p.Glu5749Gly). ClinVar contains an entry for this variant (Variation ID: 282505). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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