ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)

dbSNP: rs397515445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234544 SCV003932581 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as LP6 based on the variant meeting the following ACMG Criteria: PM2,PP3,PP1,PP2,PP4.
Invitae RCV003764717 SCV004569619 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-08-25 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 disrupts the p.Glu692 amino acid residue in FGFR1. Other variant(s) that disrupt this residue have been observed in individuals with FGFR1-related conditions (PMID: 31996231), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FGFR1 protein function. ClinVar contains an entry for this variant (Variation ID: 50851). This missense change has been observed in individual(s) with FGFR1-related conditions (PMID: 23643382). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 692 of the FGFR1 protein (p.Glu692Gly).
OMIM RCV000043590 SCV000071608 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2013-05-02 no assertion criteria provided literature only

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