ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)

dbSNP: rs121909641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab, Boston Children's Hospital RCV000156970 SCV000206691 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Fulgent Genetics, Fulgent Genetics RCV000763182 SCV000893782 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001824283 SCV002073968 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Observed in other patients with isolated gonadotropin-releasing hormone deficiency or idiopathic hypogonadotropic hypogonadism in published literature; however, detailed information is not available and one patient harbored variants in other genes (Zhu J et al., 2015; Stamou M et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Beneduzzi[article], 31628846, 25636053, 16882753, 23329143)
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234537 SCV003932552 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as LP2 based on the variant meeting the following ACMG Criteria: PS2,PM2.
OMIM RCV000030936 SCV000037969 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2006-10-01 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.