ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp)

gnomAD frequency: 0.00001  dbSNP: rs978856665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774702 SCV002003042 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001774702 SCV002507533 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1315452). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FGFR3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 110 of the FGFR3 protein (p.Arg110Trp).
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV003315262 SCV004012977 uncertain significance Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 2022-05-09 criteria provided, single submitter research

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