ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.848A>G (p.Asp283Gly)

gnomAD frequency: 0.00001  dbSNP: rs756201106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913518 SCV002183182 uncertain significance not provided 2022-10-30 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 disrupt the consensus splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CFI protein function. This variant is present in population databases (rs756201106, gnomAD 0.03%). ClinVar contains an entry for this variant (Variation ID: 1409197). This missense change has been observed in individual(s) with C3 glomerulopathy and/or thrombotic microangiopathy (PMID: 29566171, 29940891). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 283 of the CFI protein (p.Asp283Gly).
Fulgent Genetics, Fulgent Genetics RCV002503571 SCV002806852 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-21 criteria provided, single submitter clinical testing

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