ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.397_399dup (p.Asp133_Ser134insAsp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003081931 SCV003467486 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-06-13 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. This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.397_399dup, results in the insertion of 1 amino acid(s) of the FGFR1 protein (p.Asp133dup), but otherwise preserves the integrity of the reading frame.
GeneDx RCV003443119 SCV004170592 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 1 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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