ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066489 SCV003444799 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-02-08 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 821 of the FGFR1 protein (p.Arg821Cys). This variant is present in population databases (rs768736835, gnomAD 0.0009%). 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 FGFR1-related conditions.
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234803 SCV003932789 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia 2019-04-09 criteria provided, single submitter clinical testing

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