ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.96+4del

dbSNP: rs1268187387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997839 SCV001153570 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV000997839 SCV002317904 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 809298). This variant has not been reported in the literature in individuals affected with CFAP410-related conditions. This sequence change falls in intron 2 of the CFAP410 gene. It does not directly change the encoded amino acid sequence of the CFAP410 protein. It affects a nucleotide within the consensus splice site.

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