ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.193T>C (p.Tyr65His)

gnomAD frequency: 0.00008  dbSNP: rs774783110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000566 SCV002269048 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 65 of the CFI protein (p.Tyr65His). This variant is present in population databases (rs774783110, gnomAD 0.07%). 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: 1481515). 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 expected to disrupt CFI protein function with a positive 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294499 SCV002587688 uncertain significance Atypical hemolytic-uremic syndrome 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507747 SCV002814756 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-04-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146446 SCV003831625 uncertain significance Factor I deficiency 2022-06-01 criteria provided, single submitter clinical testing

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