ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1262G>A (p.Arg421Gln)

gnomAD frequency: 0.00001  dbSNP: rs587778355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515869 SCV003525407 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 421 of the FGFR3 protein (p.Arg421Gln). This variant is present in population databases (rs587778355, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FGFR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 134403). 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.
ITMI RCV000121078 SCV000085246 not provided not specified 2013-09-19 no assertion provided reference population

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