Submissions for variant NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) (rs201366911)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727057	SCV000617158	uncertain significance	not provided	2017-08-16	criteria provided, single submitter	clinical testing	The E1794G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E1794G variant is observed in 10/66,582 (0.02%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000727057	SCV000705250	uncertain significance	not provided	2018-01-26	criteria provided, single submitter	clinical testing
Invitae	RCV000694236	SCV000822671	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2018-06-22	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with glycine at codon 1794 of the SYNE1 protein (p.Glu1794Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs201366911, ExAC 0.02%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 449258). 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 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.
Athena Diagnostics Inc	RCV000727057	SCV001145979	uncertain significance	not provided	2019-07-19	criteria provided, single submitter	clinical testing

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