Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696088 | SCV000824635 | uncertain significance | Primary ciliary dyskinesia | 2022-04-15 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1890 of the DNAH8 protein (p.Ala1890Thr). This variant is present in population databases (rs375461103, gnomAD 0.06%). 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: 574215). 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 | RCV002534327 | SCV003706896 | uncertain significance | Inborn genetic diseases | 2022-05-09 | criteria provided, single submitter | clinical testing | The c.5668G>A (p.A1890T) alteration is located in exon 41 (coding exon 40) of the DNAH8 gene. This alteration results from a G to A substitution at nucleotide position 5668, causing the alanine (A) at amino acid position 1890 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |