ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.77C>T (p.Pro26Leu) (rs137852660)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239300 SCV000297352 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000767027 SCV000616947 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The P26L variant has been reported previously in association with partial Kallmann syndrome and hypogonadotropic hypogonadism (Falardeau et al., 2008; Sykiotis et al., 2010). The P26L variant was not observed at any significant frequency in approximately 7,200 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. The P26L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (Q23L) has been reported in the Human Gene Mutation Database in association with Kallmann syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000767027 SCV001014041 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000009692 SCV000029910 pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia 2008-08-01 no assertion criteria provided literature only

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.