ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr)

gnomAD frequency: 0.00016  dbSNP: rs377480048
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
Invitae RCV001064360 SCV001229257 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-10-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 858480). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs377480048, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2157 of the SYNE2 protein (p.Met2157Thr).
Ambry Genetics RCV002553957 SCV003686623 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.6470T>C (p.M2157T) alteration is located in exon 43 (coding exon 42) of the SYNE2 gene. This alteration results from a T to C substitution at nucleotide position 6470, causing the methionine (M) at amino acid position 2157 to be replaced by a threonine (T). 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.