ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.57+4A>G

gnomAD frequency: 0.00005  dbSNP: rs757464411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001144255 SCV001304844 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001858948 SCV002161956 uncertain significance not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CFI gene. It does not directly change the encoded amino acid sequence of the CFI protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs757464411, gnomAD 0.2%). 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: 899594). 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 may disrupt 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.

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