ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)

gnomAD frequency: 0.00001  dbSNP: rs747842199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001991741 SCV002280647 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-09-07 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.Val116 amino acid residue in FGFR1. Other variant(s) that disrupt this residue have been observed in individuals with FGFR1-related conditions (PMID: 18985070), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 1496164). This missense change has been observed in individual(s) with Kallman syndrome (PMID: 25077900). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 116 of the FGFR1 protein (p.Val116Ile).
Fulgent Genetics, Fulgent Genetics RCV002486599 SCV002790228 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438911 SCV004164645 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing

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