ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1532C>T (p.Ala511Val)

gnomAD frequency: 0.00004  dbSNP: rs760801046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767928 SCV000898593 uncertain significance Afibrinogenemia; Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13 2018-07-31 criteria provided, single submitter clinical testing CFI NM_000204.4 exon 12 p.Ala511Val (c.1532C>T): This variant has not been reported in the literature, but it is present in 9/33514 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/4-110663649-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002485979 SCV002777801 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003106046 SCV003781533 uncertain significance not provided 2023-09-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 511 of the CFI protein (p.Ala511Val). This variant is present in population databases (rs760801046, gnomAD 0.03%). 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: 625917). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002485979 SCV003919788 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-03-30 criteria provided, single submitter clinical testing CFI NM_000204.4 exon 12 p.Ala511Val (c.1532C>T): This variant has not been reported in the literature, but it is present in 9/33514 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/4-110663649-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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