Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792218 | SCV000931499 | uncertain significance | Primary ciliary dyskinesia | 2022-07-13 | 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 2891 of the DNAH11 protein (p.Arg2891Trp). This variant is present in population databases (rs199574130, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 639431). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |
Ambry Genetics | RCV000792218 | SCV002685674 | uncertain significance | Primary ciliary dyskinesia | 2020-08-21 | criteria provided, single submitter | clinical testing | The p.R2891W variant (also known as c.8671C>T), located in coding exon 52 of the DNAH11 gene, results from a C to T substitution at nucleotide position 8671. The arginine at codon 2891 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |