ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1409G>A (p.Arg470His)

dbSNP: rs121909637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001958351 SCV002220556 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1445817). This variant is present in population databases (rs121909637, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 470 of the FGFR1 protein (p.Arg470His).
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234586 SCV003932561 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research

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