ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1165C>T (p.Arg389Cys)

gnomAD frequency: 0.00001  dbSNP: rs1292929833
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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 RCV003768464 SCV004643562 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 389 of the CFI protein (p.Arg389Cys). This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 635432). This variant has not been reported in the literature in individuals affected with CFI-related conditions.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786883 SCV000925782 likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly 2018-09-28 no assertion criteria provided clinical testing

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