ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)

dbSNP: rs767844376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345756 SCV000331846 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000701645 SCV000830456 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 5809 of the SYNE1 protein (p.Arg5809Leu). This variant is present in population databases (rs767844376, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 281233). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000345756 SCV002542248 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000345756 SCV003825349 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000345756 SCV003926183 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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