Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001036511 | SCV001199879 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-11-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs750422567, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3096 of the DNAH1 protein (p.Arg3096Gln). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNAH1 protein function. ClinVar contains an entry for this variant (Variation ID: 835591). |
| Ambry Genetics | RCV003243405 | SCV003939587 | uncertain significance | Inborn genetic diseases | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.9287G>A (p.R3096Q) alteration is located in exon 58 (coding exon 57) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 9287, causing the arginine (R) at amino acid position 3096 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |