ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)

gnomAD frequency: 0.00001  dbSNP: rs779176432
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002975501 SCV003282765 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-05-23 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 3869 of the SYNE1 protein (p.Leu3869Phe). This variant is present in population databases (rs779176432, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions.
Ambry Genetics RCV002975502 SCV003540300 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.11607G>C (p.L3869F) alteration is located in exon 71 (coding exon 70) of the SYNE1 gene. This alteration results from a G to C substitution at nucleotide position 11607, causing the leucine (L) at amino acid position 3869 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.