ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)

gnomAD frequency: 0.00003  dbSNP: rs745848425
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254453 SCV002525633 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing This variant has been submitted to one database with conflicting interpretations of pathogenicity (classified as likely benign and variant of uncertain significance, Leiden Open Variation Database v.3.0). It has been found at a very low frequency in large population studies (1 of 31,316 alleles, Ref 2). The majority of in silico tools predict that the p.Pro573Leu change is damaging. This position is in the protein kinase domain of the protein, in which most missense variants are predicted to disrupt function of FGFR3 (Uniprot).
Fulgent Genetics, Fulgent Genetics RCV002481061 SCV002787797 uncertain significance Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis 2021-12-15 criteria provided, single submitter clinical testing

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.