ClinVar Miner

Submissions for variant NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) (rs28928899)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000056518 SCV000517216 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The L95P variant has been reported previously is a patient with sporadic pachyonychia congenita(Terrinoni et al. 2001). The L95P variant is a semi-conservative amino acid change and located in ahighly conserved region coding for the helix initiation motif of keratin 17, a known hotspot.Other pathogenic variants in this and neighboring codons (L95Q, R94H/P/G/C/Q) are published accordingto the Human Gene Mutation Database (Stenson et al. 2014). Moreover, L95P was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret L95P as a pathogenic variant.
OMIM RCV000015700 SCV000035965 pathogenic Pachyonychia congenita 2 2001-12-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056518 SCV000087629 not provided not provided no assertion provided not provided

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.