ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)

gnomAD frequency: 0.00001  dbSNP: rs1237053788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517520 SCV000615563 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV002527541 SCV003000623 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 448555). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 4784 of the SYNE1 protein (p.Arg4784Ser).
Revvity Omics, Revvity RCV003139717 SCV003824706 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing
GeneDx RCV003139717 SCV003929650 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31949146, 32579932)

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