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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