ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)

gnomAD frequency: 0.00015  dbSNP: rs199774691
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
Eurofins Ntd Llc (ga) RCV000713590 SCV000702179 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713590 SCV000844215 uncertain significance not provided 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765876 SCV000897274 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765876 SCV001401063 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3968 of the SYNE1 protein (p.Val3968Ile). This variant is present in population databases (rs199774691, gnomAD 0.07%). 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: 497581). 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. 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.
GeneDx RCV000713590 SCV001982680 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing 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
Revvity Omics, Revvity RCV000713590 SCV003826480 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing

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.