ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1477G>A (p.Val493Met)

gnomAD frequency: 0.00004  dbSNP: rs752601407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001376140 SCV001573146 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871980 SCV002291355 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2022-09-06 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. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1065576). This variant has not been reported in the literature in individuals affected with FGFR1-related conditions. This variant is present in population databases (rs752601407, gnomAD 0.04%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 493 of the FGFR1 protein (p.Val493Met).

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