ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1425+4T>C

gnomAD frequency: 0.00014  dbSNP: rs1034720999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051929 SCV001216114 uncertain significance Primary ciliary dyskinesia 2022-05-22 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the DNAH11 gene. It does not directly change the encoded amino acid sequence of the DNAH11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 848220). 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.
Ambry Genetics RCV001051929 SCV002702717 uncertain significance Primary ciliary dyskinesia 2014-09-14 criteria provided, single submitter clinical testing The c.1425+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 7 in the DNAH11 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP) and 1000 Genomes Project. In the ESP, this variant was not observed in 5862 samples (11724 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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