ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1167C>T (p.Cys389=)

dbSNP: rs1338926241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002042370 SCV002111394 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2020-11-25 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FGFR1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 389 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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