ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) (rs147143947)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713621 SCV000225129 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202692 SCV000258272 likely benign not specified 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000202692 SCV000516954 likely benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000713621 SCV000844246 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV000813932 SCV000954316 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 6474 of the SYNE1 protein (p.Arg6474Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs147143947, 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: 193777). 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: "Benign"; Align-GVGD: "Class C15"). 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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