Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457897 | SCV000546401 | uncertain significance | Primary ciliary dyskinesia | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 4219 of the DNAH8 protein (p.Arg4219Gln). This variant is present in population databases (rs144808884, gnomAD 0.08%). This missense change has been observed in individual(s) with features of primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 407304). 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. |
Ambry Genetics | RCV002525557 | SCV003695219 | uncertain significance | Inborn genetic diseases | 2022-04-14 | criteria provided, single submitter | clinical testing | The c.12656G>A (p.R4219Q) alteration is located in exon 84 (coding exon 83) of the DNAH8 gene. This alteration results from a G to A substitution at nucleotide position 12656, causing the arginine (R) at amino acid position 4219 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |