ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1697-3A>C

gnomAD frequency: 0.00001  dbSNP: rs778174105
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925721 SCV002182307 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CFH gene. It does not directly change the encoded amino acid sequence of the CFH protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778174105, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CFH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1413155). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV002484478 SCV002792357 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446951 SCV004172508 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446954 SCV004172509 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446953 SCV004172510 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446952 SCV004172511 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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