ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) (rs139384691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000271983 SCV000344730 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV000557154 SCV000649098 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 6657 of the SYNE1 protein (p.Arg6657His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs139384691, ExAC 0.04%) but has not been reported in the literature in individuals with a SYNE1-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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