ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) (rs773506774)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713626 SCV000342839 uncertain significance not provided 2016-06-13 criteria provided, single submitter clinical testing
Invitae RCV000560214 SCV000649101 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 6779 of the SYNE1 protein (p.Asp6779Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs773506774, ExAC 0.002%) 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. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics Inc RCV000713626 SCV000844252 uncertain significance not provided 2018-08-08 criteria provided, single submitter clinical testing

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