Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543579 | SCV000623983 | uncertain significance | Primary ciliary dyskinesia | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 3899 of the DNAH8 protein (p.Arg3899Trp). This variant is present in population databases (rs138030174, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of primary ciliary dyskinesia (PMID: 31213628). ClinVar contains an entry for this variant (Variation ID: 454541). 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV002298641 | SCV002588192 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | Identified in a patient with primary ciliary dyskinesia who also harbored variants in three other primary ciliary dyskinesia genes (Olm et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31213628) |