ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)

gnomAD frequency: 0.00001  dbSNP: rs377149398
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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 RCV001339887 SCV001533663 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2021-07-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 784 of the FGFR1 protein (p.Arg784Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FGFR1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002486365 SCV002790165 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-12-07 criteria provided, single submitter clinical testing

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