Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472051 | SCV000546377 | uncertain significance | Primary ciliary dyskinesia | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 1584 of the DNAH8 protein (p.Glu1584Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). 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: "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 | RCV002523309 | SCV003746634 | uncertain significance | Inborn genetic diseases | 2022-07-26 | criteria provided, single submitter | clinical testing | The c.4750G>A (p.E1584K) alteration is located in exon 35 (coding exon 34) of the DNAH8 gene. This alteration results from a G to A substitution at nucleotide position 4750, causing the glutamic acid (E) at amino acid position 1584 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |