ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) (rs1060501456)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469460 SCV000546311 pathogenic Primary ciliary dyskinesia 2016-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 4089 (p.Gln4089*) of the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic. This particular variant has been reported in an individual affected with primary ciliary dyskinesia (PMID: 25186273). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760474 SCV000890363 likely pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The Q4089X variant in the DNAH5 gene has been reported in the heterozygous state with a second loss-of-function variant in an individual with primary ciliary dyskinesia, however, the phase of these variants was not confirmed, and additional clinical information was not provided (Raidt et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q4089X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q4089X as a likely pathogenic variant.

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