ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1554G>A (p.Ser518=)

gnomAD frequency: 0.00001  dbSNP: rs199499923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348533 SCV001542837 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-06-16 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1044306). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs199499923, gnomAD 0.01%). This sequence change affects codon 518 of the FGFR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FGFR1 protein.

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