Submissions for variant NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) (rs201127061)

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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	RCV000596014	SCV000704351	uncertain significance	not provided	2016-12-27	criteria provided, single submitter	clinical testing
Invitae	RCV000793757	SCV000933127	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2019-05-30	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine with leucine at codon 2515 of the SYNE1 protein (p.Gln2515Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is present in population databases (rs201127061, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 499048). 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 C65"). 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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