ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)

dbSNP: rs121909645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514107 SCV003440846 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects FGFR1 function (PMID: 18596921, 19820032). 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"). ClinVar contains an entry for this variant (Variation ID: 16303). This missense change has been observed in individual(s) with clinical features of Kallmann syndrome (PMID: 18596921, 20696889, 31748124, 33442024). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 250 of the FGFR1 protein (p.Arg250Gln).
Reproductive Endocrine Unit, Massachusetts General Hospital RCV000030940 SCV003932530 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research
OMIM RCV000030940 SCV000037973 risk factor Hypogonadotropic hypogonadism 2 with or without anosmia 2013-05-02 no assertion criteria provided literature only

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