ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2783-3dup

dbSNP: rs748791414
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191619 SCV002488132 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294514 SCV002587707 likely benign Atypical hemolytic-uremic syndrome 2020-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445137 SCV004172530 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445140 SCV004172531 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445139 SCV004172532 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445138 SCV004172533 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690264 SCV005185163 benign not specified 2024-05-21 criteria provided, single submitter clinical testing Variant summary: CFH c.2783-3dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0016 in 1358588 control chromosomes, predominantly at a frequency of 0.0059 within the African or African-American subpopulation in the gnomAD database, including 1 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in CFH causing CFH-Related Disorders phenotype. To our knowledge, no occurrence of c.2783-3dupT in individuals affected with CFH-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1668120). Based on the evidence outlined above, the variant was classified as benign.

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