ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)

dbSNP: rs886043613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626771 SCV000747474 pathogenic Skeletal dysplasia; Craniosynostosis syndrome; Short stature; Genu varum 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000313050 SCV003525582 likely pathogenic not provided 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 200 of the FGFR3 protein (p.Arg200Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypochondroplasia (PMID: 16912704, 19215249, 32981126). ClinVar contains an entry for this variant (Variation ID: 287276). 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) performed at Invitae indicates that this missense variant is expected to disrupt FGFR3 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796152 SCV005416191 uncertain significance Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans 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; Lacrimoauriculodentodigital syndrome 2 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PS4_Supporting+PP4
Eurofins Ntd Llc (ga) RCV000313050 SCV000340995 uncertain significance not provided 2016-04-27 flagged submission clinical testing

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