ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)

gnomAD frequency: 0.00001  dbSNP: rs767698667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002050495 SCV002114316 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-11-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs767698667, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Glu792Glyfs*7) in the FGFR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the FGFR1 protein. This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. 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: 1347067).
Fulgent Genetics, Fulgent Genetics RCV002506873 SCV002816281 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-11-09 criteria provided, single submitter clinical testing
GeneDx RCV003227040 SCV003923945 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing Identified in a patient with primary pulmonary choriocarcinoma who also harbored variants in the TP53 and NRAS genes in published literature (Zhang et al., 2022); Frameshift variant predicted to result in protein truncation as the last 31 amino acids are replaced with 6 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 35836509)

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