ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)

dbSNP: rs1462578042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000627043 SCV000747748 pathogenic Primary ciliary dyskinesia 2017-11-06 criteria provided, single submitter clinical testing This heterozygous variant in the DNAH5 gene was identified in a patient with primary ciliary dyskinesia. However, a variant in the second allele of this gene (of recessive transmission) has not yet been identified.
Invitae RCV000627043 SCV000961342 pathogenic Primary ciliary dyskinesia 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg761Serfs*10) 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 523616). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784187 SCV002017285 likely pathogenic Primary ciliary dyskinesia 3 2020-12-07 criteria provided, single submitter clinical testing

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