ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1854+15_1854+31del

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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 RCV002636101 SCV002973156 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-10-26 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the FGFR1 gene. It does not directly change the encoded amino acid sequence of the FGFR1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1935828). 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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