ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)

dbSNP: rs1554570813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593963 SCV000708746 likely pathogenic not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000644518 SCV000766217 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2017-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln72*) in the FGFR1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FGFR1 are known to be pathogenic (PMID: 12627230). This variant has been reported in an individual affected with Kallman syndrome (PMID: 27502037). This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002483651 SCV002796643 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-10-11 criteria provided, single submitter clinical testing

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