ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.530A>T (p.Asn177Ile)

gnomAD frequency: 0.00002  dbSNP: rs753060374
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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 RCV002020789 SCV002306081 uncertain significance not provided 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 177 of the CFI protein (p.Asn177Ile). This variant is present in population databases (rs753060374, gnomAD 0.009%). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 22710145, 23431077, 24036952). ClinVar contains an entry for this variant (Variation ID: 1515028). 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 with a negative predictive value of 80%. 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 RCV002492374 SCV002781570 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-10-07 criteria provided, single submitter clinical testing

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