ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.12143del (p.Ala4048fs)

gnomAD frequency: 0.00003  dbSNP: rs746049858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554092 SCV000660173 pathogenic Spermatogenic failure 18 2017-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala4048Aspfs*6) in the DNAH1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746049858, ExAC 0.007%). This variant has not been reported in the literature in individuals with a DNAH1-related disease. Loss-of-function variants in DNAH1 are known to be pathogenic (PMID: 27573432, 27798045). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV002527960 SCV002990306 pathogenic Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-06-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 478373). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs746049858, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ala4048Aspfs*6) in the DNAH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH1 are known to be pathogenic (PMID: 27573432, 27798045).

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