Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genomic and Experimental Medicine, |
RCV001268926 | SCV001334263 | likely pathogenic | Primary ciliary dyskinesia | 2020-04-01 | criteria provided, single submitter | research | |
Beijing Key Laboratry for Genetics of Birth Defects, |
RCV001594411 | SCV001499938 | pathogenic | Primary ciliary dyskinesia 7 | 2020-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001268926 | SCV001574405 | likely pathogenic | Primary ciliary dyskinesia | 2020-02-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 4458 of the DNAH11 protein (p.Pro4458Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs72658835, ExAC 0.05%). This variant has been observed in individual(s) with clinical features of DNAH11-related conditions (PMID: 22184204, 29997923, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Not Available; PolyPhen-2: Probably Damaging; Align-GVGD: Not Available). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |