ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) (rs1193586811)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629446 SCV000750388 pathogenic Primary ciliary dyskinesia 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2802*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in a family affected with primary ciliary dyskinesia (PMID: 16627867). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760376 SCV000890239 likely pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The Q2802X variant in the DNAH5 gene has been reported previously in an individual with primary ciliary dyskinesia who also harbored another DNAH5 variant, although parental studies were not performed to determine the phase of these two variants (Hornef et al., 2006). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2802X variant is observed in 4/126,618 (0.0032%) alleles from individuals of European (Non-Finnish) background in large population cohorts (Lek et al., 2016). We interpret Q2802X as a likely pathogenic variant.

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