Submissions for variant NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp) (rs375616724)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000402201	SCV000343410	uncertain significance	not provided	2016-07-26	criteria provided, single submitter	clinical testing
Invitae	RCV001062654	SCV001227469	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2019-03-06	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with tryptophan at codon 8470 of the SYNE1 protein (p.Arg8470Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs375616724, ExAC 0.001%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289116). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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