ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val)

gnomAD frequency: 0.00001  dbSNP: rs767419329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910402 SCV002191241 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 498 of the FGFR1 protein (p.Ile498Val). This variant is present in population databases (rs767419329, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. 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. 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.

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