ClinVar Miner

Submissions for variant NM_033163.4(FGF8):c.157G>C (p.Val53Leu) (rs1554834889)

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
Muenke lab,National Institutes of Health RCV000656426 SCV000746204 likely pathogenic Holoprosencephaly sequence 2018-04-19 criteria provided, single submitter research Consistent clinical presentation. One of multiple examples of alternative splicing eliminating the production of the most potent alternative splice forms. Predicted to be benign as an amino acid missense variation (BP3). This prediction was ignored based on splicing considerations of likely pathogenicity. ACMG criteria met: PVS1;PM2;PP3;PP6 (BP3 not considered).

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.