Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000629515 | SCV000750460 | uncertain significance | Primary ciliary dyskinesia | 2022-09-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DNAH8-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. 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"). ClinVar contains an entry for this variant (Variation ID: 525453). This variant is present in population databases (rs375158290, gnomAD 0.006%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3910 of the DNAH8 protein (p.Phe3910Ser). |
| Ambry Genetics | RCV004025369 | SCV004006973 | uncertain significance | not specified | 2023-06-07 | criteria provided, single submitter | clinical testing | The c.11729T>C (p.F3910S) alteration is located in exon 78 (coding exon 77) of the DNAH8 gene. This alteration results from a T to C substitution at nucleotide position 11729, causing the phenylalanine (F) at amino acid position 3910 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |