ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.10963-1G>A

gnomAD frequency: 0.00003  dbSNP: rs376903331
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704751 SCV000833713 likely pathogenic Primary ciliary dyskinesia 2021-04-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs376903331, ExAC 0.006%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 581044). This sequence change affects an acceptor splice site in intron 73 of the DNAH8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375).

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