ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter)

dbSNP: rs878854446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233638 SCV000287024 pathogenic Primary ciliary dyskinesia 2016-03-13 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in DNAH11 are known to be pathogenic (PMID: 22184204). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 2870 (p.Tyr2870*) of the DNAH11 gene. It is expected to result in an absent or disrupted protein product.

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