ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10691+5G>C

gnomAD frequency: 0.00001  dbSNP: rs1429978132
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224508 SCV001396708 likely pathogenic Primary ciliary dyskinesia 2023-04-06 criteria provided, single submitter clinical testing This sequence change falls in intron 65 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: 952401). This variant has been observed in individual(s) with primary ciliary dyskinesia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.01%).

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