Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001243027 | SCV001416157 | uncertain significance | Primary ciliary dyskinesia | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with alanine at codon 3728 of the DNAH8 protein (p.Pro3728Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs138016358, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 | RCV003284113 | SCV004007746 | uncertain significance | Inborn genetic diseases | 2023-06-13 | criteria provided, single submitter | clinical testing | The c.11182C>G (p.P3728A) alteration is located in exon 75 (coding exon 74) of the DNAH8 gene. This alteration results from a C to G substitution at nucleotide position 11182, causing the proline (P) at amino acid position 3728 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |