ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter)

dbSNP: rs1554074565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536501 SCV000624263 pathogenic Primary ciliary dyskinesia 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1706*) in 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 (PMID: 11788826, 16627867). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of DNAH5-related conditions (PMID: 31638833; Invitae). ClinVar contains an entry for this variant (Variation ID: 454780). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003317256 SCV004021805 likely pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing Identified in one individual in a cohort of patients with primary ciliary dyskinesia, although clinical details were not provided and it is unclear if this variant was homozygous or detected with a second DNAH5 variant (Nthe-Menchen et al., 2019); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31638833)

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