ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) (rs557081125)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713678 SCV000337410 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713678 SCV000844305 uncertain significance not provided 2017-12-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000713678 SCV001154958 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001042732 SCV001206433 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1821 of the SYNE1 protein (p.Glu1821Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs557081125, ExAC 0.05%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284690). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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