ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1470A>T (p.Lys490Asn)

gnomAD frequency: 0.00005  dbSNP: rs1458122971
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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 RCV001875624 SCV002151297 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 490 of the CFI protein (p.Lys490Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant has not been reported in the literature in individuals with CFI-related conditions. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV005023369 SCV005658371 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-05-27 criteria provided, single submitter clinical testing

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