ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.9194+1G>A (rs144711161)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228661 SCV000286347 likely pathogenic Primary ciliary dyskinesia 2017-03-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 62 of the DNAH8 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a DNAH8-related disease. ClinVar contains an entry for this variant (Variation ID: 238657). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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