ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.788G>T (p.Gly263Val)

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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 RCV002633905 SCV003520129 uncertain significance not provided 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 263 of the CFI protein (p.Gly263Val). This variant is present in population databases (rs200544168, gnomAD 0.004%). This missense change has been observed in individual(s) with macular degeneration (PMID: 24036952, 32510551). ClinVar contains an entry for this variant (Variation ID: 2198820). 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%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CFI function (PMID: 32510551, 35531992). 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 RCV005028298 SCV005658408 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2024-04-03 criteria provided, single submitter clinical testing

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