ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)

gnomAD frequency: 0.00002  dbSNP: rs764892330
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002231794 SCV000640372 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on FGFR3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a FGFR3-related disease. This variant is present in population databases (rs764892330, ExAC 0.006%). This sequence change replaces alanine with serine at codon 665 of the FGFR3 protein (p.Ala665Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.
Fulgent Genetics, Fulgent Genetics RCV000765769 SCV000897157 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; Malignant tumor of testis; Carcinoma of colon 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002231794 SCV003194804 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.