ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys)

dbSNP: rs267606806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857786 SCV002194957 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2021-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This missense change has been observed in individual(s) with clinical features of normosmic idiopathic hypogonadotropic hypogonadism (PMID: 16606836). This sequence change replaces asparagine with lysine at codon 724 of the FGFR1 protein (p.Asn724Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine.
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234553 SCV003932590 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as LP2 based on the variant meeting the following ACMG Criteria: PS3,PM2,PP2.

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