ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1429+1G>C

gnomAD frequency: 0.00004  dbSNP: rs368555424
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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 RCV001377305 SCV001574606 pathogenic not provided 2024-01-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the CFI gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFI are known to be pathogenic (PMID: 15917334, 16621965, 19065647, 20016463, 22710145). This variant is present in population databases (rs368555424, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with CFI-related conditions (PMID: 23421077, 24036952, 28455885; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1066334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294457 SCV002587656 likely pathogenic Atypical hemolytic-uremic syndrome 2021-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504628 SCV002815539 pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-05-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001377305 SCV005413657 pathogenic not provided 2023-09-26 criteria provided, single submitter clinical testing PM2, PS3_supporting, PS4_moderate, PVS1

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