ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) (rs201346604)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647643 SCV000769441 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 6202 of the SYNE1 protein (p.Glu6202Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs201346604, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related disease. 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 C55"). 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 RCV000733181 SCV000861212 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing

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