ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.338G>A (p.Ser113Asn)

gnomAD frequency: 0.00012  dbSNP: rs150610189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925849 SCV002180042 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 113 of the CFI protein (p.Ser113Asn). This variant is present in population databases (rs150610189, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 1413318). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294492 SCV002587616 uncertain significance Atypical hemolytic-uremic syndrome 2021-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479391 SCV002786122 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-09-15 criteria provided, single submitter clinical testing

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