ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)

gnomAD frequency: 0.00001  dbSNP: rs754971865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052884 SCV001217119 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs754971865, gnomAD 0.009%). 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: 849009). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 4005 of the SYNE1 protein (p.Val4005Ile).

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