ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) (rs121909627)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644520 SCV000766219 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 252 of the FGFR1 protein (p.Pro252Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs121909627, ExAC 0.002%). This variant has been reported in individuals with Pfeiffer syndrome (PMID: 14564217, 16957473, 10861678, 24127277, 7795583, 24497711) and has been reported to segregate with Pfeiffer syndrome in families (PMID: 7874169, 25251565, 14564217). ClinVar contains an entry for this variant (Variation ID: 16279). Experimental studies have shown that this missense change results in a fibroblast growth factor receptor with altered ligand binding (PMID: 14613973). In addition, mice with one or two copies of this variant exhibit a phenotype reminiscent of that seen in humans (PMID: 10942429). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200303 SCV001371225 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
OMIM RCV000017669 SCV000037946 pathogenic Pfeiffer syndrome 2004-01-01 no assertion criteria provided literature only
OMIM RCV000017670 SCV000037947 pathogenic Jackson-Weiss syndrome 2004-01-01 no assertion criteria provided literature only

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