ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) (rs75153800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726171 SCV000342614 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000377851 SCV000597345 uncertain significance not specified 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000647636 SCV000769434 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 451 of the SYNE1 protein (p.Arg451Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs75153800, ExAC 0.02%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 288498). 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.

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