ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1075G>T (p.Asp359Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003349955 SCV004061338 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.1075G>T (p.D359Y) alteration is located in exon 10 (coding exon 10) of the CFI gene. This alteration results from a G to T substitution at nucleotide position 1075, causing the aspartic acid (D) at amino acid position 359 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029995 SCV005658391 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
Labcorp Genetics (formerly Invitae), Labcorp RCV005104090 SCV005832663 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 359 of the CFI protein (p.Asp359Tyr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 2597062). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.

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