Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003801112 | SCV004592626 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg809*) in the FGFR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the FGFR1 protein. This variant is present in population databases (rs775166971, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Breakthrough Genomics, |
RCV004596608 | SCV005088820 | likely pathogenic | Hartsfield-Bixler-Demyer syndrome | 2022-02-11 | criteria provided, single submitter | clinical testing | This variant is predicted to cause a premature termination of the protein (p.Arg807Ter) and the resultant protein will likely to lack C-terminal region of the protein [UniProt]; this will likely result in loss-of-function. The variant has not been reported in individuals affected with FGFR1-related disorders. However, another truncating variant p.Arg821fs lying downstream of this variant, has been previously reported as ‘likely pathogenic’ in the ClinVar database context of hypogonadotropic hypogonadism 2 with or without anosmia. |