ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=)

gnomAD frequency: 0.00002  dbSNP: rs762887399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350776 SCV000343406 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV000647645 SCV000769443 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-19 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 289112). This variant is present in population databases (rs762887399, ExAC 0.009%). This sequence change affects codon 1351 of the SYNE1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SYNE1 protein.

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