ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035192 SCV001198507 likely pathogenic Primary ciliary dyskinesia 2019-11-28 criteria provided, single submitter clinical testing This variant, c.10219_10233del, results in the deletion of 5 amino acid(s) of the DNAH5 protein (p.Cys3407_Lys3411del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (Invitae). This variant disrupts the p.Trp3409 amino acid residue in DNAH5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16627867, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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