ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) (rs1602353928)

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
Broad Institute Rare Disease Group,Broad Institute RCV000984494 SCV001132545 uncertain significance Mental retardation, X-linked 104 2018-11-15 criteria provided, single submitter research The hemizygous p.Gln430Glu variant in FRMPD4 was identified by our study in one individual with X-Linked Mental Retardation. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln430Glu variant is uncertain.

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.