ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)

gnomAD frequency: 0.00002  dbSNP: rs777103792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001596882 SCV001832382 uncertain significance not provided 2019-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001596882 SCV001871187 uncertain significance not provided 2021-08-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488437 SCV002791964 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-09-23 criteria provided, single submitter clinical testing

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