ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.799-269_1072del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458340 SCV000546341 likely pathogenic Primary ciliary dyskinesia 2016-11-19 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region involving exons 7-8 of the DNAH5 gene. This deletion removes all of exon 7 and most of exon 8. While it is uncertain how this deletion affects mRNA splicing, it is expected to result in a disrupted DNAH5 protein with an in-frame deletion of ~97 amino acids. This variant has not been reported in the literature in an individual with a DNAH5-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted region is currently unknown. This variant occurs with a pathogenic variant (p.Arg1995*) in DNAH5 in an individual with primary ciliary dyskinesia (Invitae). While it is currently unknown if these two variants are on the same or opposite chromosomes, this observation suggests that this deletion may contribute to the cause of disease. In summary, this variant is a gross deletion involving exons 7-8 that has been observed in an affected individual. The evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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