Submissions for variant NM_000204.5(CFI):c.1533A>G (p.Ala511=)

gnomAD frequency: 0.00006  dbSNP: rs369715801

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001303735	SCV001492989	uncertain significance	not provided	2022-02-04	criteria provided, single submitter	clinical testing	This sequence change affects codon 511 of the CFI mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CFI protein. It affects a nucleotide within the consensus 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1006658). This variant has not been reported in the literature in individuals affected with CFI-related conditions. This variant is present in population databases (rs369715801, gnomAD 0.01%).
Fulgent Genetics, Fulgent Genetics	RCV002504457	SCV002806975	uncertain significance	Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency	2022-02-27	criteria provided, single submitter	clinical testing