ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val)

dbSNP: rs1554686616
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647631 SCV000769429 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-11-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNE1-related disease. This sequence change replaces glutamic acid with valine at codon 1566 of the SYNE1 protein (p.Glu1566Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). 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 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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