ClinVar Miner

Submissions for variant NM_020638.3(FGF23):c.550G>A (p.Asp184Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002786176 SCV003021034 uncertain significance not provided 2023-05-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1986419). 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FGF23-related conditions. This variant is present in population databases (rs768373820, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 184 of the FGF23 protein (p.Asp184Asn).
Ambry Genetics RCV002805505 SCV003731352 uncertain significance Inborn genetic diseases 2021-04-01 criteria provided, single submitter clinical testing Unlikely to be causative of hypophosphatemic rickets (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008752 SCV005635053 uncertain significance Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2 2024-06-13 criteria provided, single submitter clinical testing

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