ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1479C>A (p.Ser493Arg)

gnomAD frequency: 0.00001  dbSNP: rs780759494
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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 RCV001932541 SCV002133819 uncertain significance not provided 2023-05-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1367661). This variant has not been reported in the literature in individuals affected with CFI-related conditions. This variant is present in population databases (rs780759494, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 493 of the CFI protein (p.Ser493Arg). 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 not expected to disrupt CFI 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 RCV002482546 SCV002776475 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-11-18 criteria provided, single submitter clinical testing

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