ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)

dbSNP: rs138747167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053585 SCV001217854 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 7682 of the SYNE1 protein (p.Arg7682Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs138747167, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 disruptive. 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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