ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) (rs886042314)

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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 RCV000713596 SCV000333326 uncertain significance not provided 2015-07-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713596 SCV000844221 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV001043583 SCV001207336 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 4407 of the SYNE1 protein (p.Phe4407Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 282115). 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 and their clinical significance is uncertain. 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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