ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)

dbSNP: rs2295192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731786 SCV000859638 uncertain significance not provided 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000821917 SCV000962691 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 8687 of the SYNE1 protein (p.Arg8687Leu). This variant is present in population databases (rs2295192, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596072). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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