ClinVar Miner

Submissions for variant NM_020638.3(FGF23):c.636C>A (p.Ser212Arg)

gnomAD frequency: 0.00004  dbSNP: rs749770315
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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 RCV002025916 SCV002292162 uncertain significance not provided 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 212 of the FGF23 protein (p.Ser212Arg). This variant is present in population databases (rs749770315, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FGF23-related conditions. ClinVar contains an entry for this variant (Variation ID: 1504076). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FGF23 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002486651 SCV002779876 uncertain significance Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2 2024-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002657710 SCV003550831 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.636C>A (p.S212R) alteration is located in exon 3 (coding exon 3) of the FGF23 gene. This alteration results from a C to A substitution at nucleotide position 636, causing the serine (S) at amino acid position 212 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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