ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)

dbSNP: rs138489552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512821 SCV000609296 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing FGFR1: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001343353 SCV001537327 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-01-13 criteria provided, single submitter clinical testing This variant, c.396_398dup, results in the insertion of 1 amino acid(s) of the FGFR1 protein (p.Asp133dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776622310, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with clinical features of FGFR1-related conditions (PMID: 36901693). ClinVar contains an entry for this variant (Variation ID: 444746). 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.
GeneDx RCV000512821 SCV001874264 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Faculty of Pharmacy, University of Ljubljana RCV003314603 SCV004014644 uncertain significance Mendelian syndromes with cleft lip/palate no assertion criteria provided research

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