ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys)

gnomAD frequency: 0.00001  dbSNP: rs982371464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484860 SCV000573515 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002525951 SCV003491023 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-01-31 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 423777). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 360 of the FGFR1 protein (p.Glu360Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005049569 SCV005680241 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2024-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740260 SCV005359914 uncertain significance FGFR1-related disorder 2024-09-25 no assertion criteria provided clinical testing The FGFR1 c.1078G>A variant is predicted to result in the amino acid substitution p.Glu360Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD. 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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