Submissions for variant NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) (rs143313866)

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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	RCV000403339	SCV000343722	uncertain significance	not provided	2016-07-08	criteria provided, single submitter	clinical testing
Invitae	RCV000701780	SCV000830596	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2018-01-24	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with asparagine at codon 2936 of the SYNE1 protein (p.Asp2936Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs143313866, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 289370). 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: "Possibly Damaging"; 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.

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