ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) (rs759577495)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517444 SCV000615646 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727530 SCV000709501 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000796046 SCV000935537 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 8475 of the SYNE1 protein (p.Arg8475His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs759577495, ExAC 0.006%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 448591). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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