ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1168A>G (p.Met390Val)

dbSNP: rs376921992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002042145 SCV002109405 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2021-08-29 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs376921992, ExAC 0.001%). This sequence change replaces methionine with valine at codon 390 of the FGFR1 protein (p.Met390Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003120726 SCV003799175 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing PM2
PreventionGenetics, part of Exact Sciences RCV004536367 SCV004120980 uncertain significance FGFR1-related disorder 2023-01-23 criteria provided, single submitter clinical testing The FGFR1 c.1168A>G variant is predicted to result in the amino acid substitution p.Met390Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-38277167-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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