Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000460761 | SCV000546367 | uncertain significance | Primary ciliary dyskinesia | 2018-05-08 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 3800 of the DNAH8 protein (p.Val3800Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs371600150, ExAC 0.005%). This variant has not been reported in the literature in individuals with DNAH8-related disease. ClinVar contains an entry for this variant (Variation ID: 407271). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably damaging"; 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 | RCV002525553 | SCV003657980 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.11398G>A (p.V3800I) alteration is located in exon 76 (coding exon 75) of the DNAH8 gene. This alteration results from a G to A substitution at nucleotide position 11398, causing the valine (V) at amino acid position 3800 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |