ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp)

gnomAD frequency: 0.00003  dbSNP: rs755302191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518055 SCV000615624 uncertain significance not specified 2016-08-23 criteria provided, single submitter clinical testing
Invitae RCV001209359 SCV001380789 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-10-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448582). This variant is present in population databases (rs755302191, ExAC 0.006%). This sequence change replaces arginine with tryptophan at codon 7484 of the SYNE1 protein (p.Arg7484Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. 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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