ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro)

gnomAD frequency: 0.00001  dbSNP: rs1161905783
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226067 SCV001398363 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2019-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MUSK-related conditions. This sequence change replaces serine with proline at codon 489 of the MUSK protein (p.Ser489Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). 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 C0"). 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.

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.