ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1319G>A (p.Gly440Glu)

gnomAD frequency: 0.00003  dbSNP: rs372654433
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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 RCV001228910 SCV001401337 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-07-19 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 956157). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs372654433, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 440 of the FGFR1 protein (p.Gly440Glu).

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