ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) (rs201664645)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000734649 SCV000615651 uncertain significance not provided 2018-11-02 criteria provided, single submitter clinical testing
Invitae RCV000686656 SCV000814184 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 8634 of the SYNE1 protein (p.Gly8634Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201664645, ExAC 0.06%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 448594). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734649 SCV000862805 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing

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