ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del)

dbSNP: rs764020658
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 RCV001313396 SCV001503889 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2020-09-25 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with WASHC5-related conditions. This variant is present in population databases (rs764020658, ExAC 0.001%). This variant, c.1040_1042del, results in the deletion of 1 amino acid(s) of the WASHC5 protein (p.Glu347del), but otherwise preserves the integrity of the reading frame.

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.