ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1042G>A (p.Gly348Arg) (rs886037634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000319353 SCV000329590 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing The G348R pathogenic variant has been published previously in association with Kallmann syndrome, including apparent de novo occurrences (Bailleul-Forestier et al., 2010; Miraoui et al., 2013; Baetens et al., 2014; Villanueva et al., 2015). It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. G348R is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position within the Ig-like C2-type 3 domain that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants at the same residue (G348E) and in nearby residues (A343V, S346C) have been reported in the Human Gene Mutation Database in association with Kallmann syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein.
OMIM RCV000043588 SCV000071606 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2015-08-01 no assertion criteria provided literature only

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