Submissions for variant NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) (rs529921934)

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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	RCV000318614	SCV000339530	uncertain significance	not provided	2016-02-23	criteria provided, single submitter	clinical testing
Invitae	RCV000693193	SCV000821052	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2018-12-12	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine with arginine at codon 8498 of the SYNE1 protein (p.Gln8498Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs529921934, ExAC 0.05%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 286199). 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: "Probably Damaging"; 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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