Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000471047 | SCV000546380 | uncertain significance | Primary ciliary dyskinesia | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 2375 of the DNAH8 protein (p.Asn2375His). This variant is present in population databases (rs141532428, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 407284). 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 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. |
| Fulgent Genetics, |
RCV002480383 | SCV000895767 | uncertain significance | Spermatogenic failure 46 | 2021-09-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002525554 | SCV003738098 | uncertain significance | Inborn genetic diseases | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.7123A>C (p.N2375H) alteration is located in exon 50 (coding exon 49) of the DNAH8 gene. This alteration results from a A to C substitution at nucleotide position 7123, causing the asparagine (N) at amino acid position 2375 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |