Submissions for variant NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) (rs776816480)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000540167	SCV000649005	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2017-10-05	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with serine at codon 3540 of the SYNE1 protein (p.Arg3540Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs776816480, ExAC 0.003%). 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 C35"). 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	RCV000713577	SCV000844202	uncertain significance	not provided	2017-09-05	criteria provided, single submitter	clinical testing

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