ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.192+5G>T

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 RCV003083222 SCV003458983 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-03-20 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the RAPSN gene. It does not directly change the encoded amino acid sequence of the RAPSN protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752783661, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.