ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp)

gnomAD frequency: 0.00001  dbSNP: rs375611478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493180 SCV000583148 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing The R675W variant in the FGFR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R675W variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R675W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (A671P) has been reported in the Human Gene Mutation Database in association with idiopathic hypogonadotropic hypogonadism (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret R675W as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005044742 SCV005680215 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2024-01-01 criteria provided, single submitter clinical testing

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