ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)

dbSNP: rs1557036757
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
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV000498526 SCV000503004 likely pathogenic Intellectual disability, X-linked syndromic, Turner type 2017-01-18 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335315 SCV004046075 likely pathogenic X-linked intellectual disability criteria provided, single submitter clinical testing This variant has been previously reported as a de novo change in a female patient with X-linked intellectual disability (PMID: 29180823). That reported patient had abnormal X-inactivation studies (PMID: 29180823). It is absent from the gnomAD population database and thus is presumed to be rare. The c.344C>T (p.Ser115Phe) variant is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.344C>T (p.Ser115Phe) variant is classified as Likely Pathogenic.

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.