ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) (rs180727534)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713587 SCV000844212 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713587 SCV000334006 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393083 SCV000461259 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284405 SCV000461260 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000815827 SCV000956299 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 3877 of the SYNE1 protein (p.Leu3877Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs180727534, ExAC 0.03%). This variant has been observed in combination with other SYNE1 variants in a family affected with intellectual disability, spastic paraplegia, axon neuropathy and leukoencephalopathy (PMID: 24123876). This variant is also known as p.Leu3892Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 92125). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
OMIM RCV000077791 SCV000109617 uncertain significance Intellectual functioning disability 2013-12-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.