ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3000+3A>G

gnomAD frequency: 0.00001  dbSNP: rs781625159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971734 SCV002259717 uncertain significance Primary ciliary dyskinesia 2021-10-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. This variant is present in population databases (rs781625159, ExAC 0.009%). This sequence change falls in intron 15 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.
GeneDx RCV003314715 SCV004014072 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Undiagnosed Diseases Network, NIH RCV003992595 SCV004812059 uncertain significance Primary ciliary dyskinesia 7 2024-01-23 no assertion criteria provided clinical testing

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