ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)

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
Ambry Genetics RCV002768044 SCV003584850 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.205G>A (p.D69N) alteration is located in exon 3 (coding exon 2) of the FGFR1 gene. This alteration results from a G to A substitution at nucleotide position 205, causing the aspartic acid (D) at amino acid position 69 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234598 SCV003932463 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003777735 SCV004573097 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 69 of the FGFR1 protein (p.Asp69Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 2252300). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FGFR1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.