ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr)

gnomAD frequency: 0.00001  dbSNP: rs537532640
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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) RCV000591903 SCV000705767 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV001860188 SCV002163482 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-18 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 500007). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs537532640, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 4167 of the SYNE1 protein (p.Arg4167Thr).

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