ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln)

dbSNP: rs1257312391
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 RCV001774037 SCV001994514 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as a pathogenic or benign germline variant to our knowledge
Illumina Laboratory Services, Illumina RCV001796998 SCV002038570 uncertain significance FGFR1-related craniosynostosis syndrome 2021-06-18 criteria provided, single submitter clinical testing The FGFR1 c.1982G>A (p.Arg661Gln) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No informative publications were found based on this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. Multiple in-silico variant effect predictor algorithms indicate a deleterious impact for this variant, though these predictions have not been experimentally confirmed. Based on the available evidence, the p.Arg661Gln variant is classified as a variant of uncertain significance for FGFR1-related craniosynostosis syndrome.
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234584 SCV003932574 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research

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.