Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000706205 | SCV000835243 | uncertain significance | Primary ciliary dyskinesia | 2022-11-03 | criteria provided, single submitter | clinical testing | 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 DNAH8 protein function. ClinVar contains an entry for this variant (Variation ID: 582198). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is present in population databases (rs747224041, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1993 of the DNAH8 protein (p.Ser1993Leu). |
| Ambry Genetics | RCV003258941 | SCV003982603 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.5978C>T (p.S1993L) alteration is located in exon 43 (coding exon 42) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 5978, causing the serine (S) at amino acid position 1993 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |