Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629436 | SCV000750377 | uncertain significance | Primary ciliary dyskinesia | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 720 of the DNAH8 protein (p.Asp720Val). This variant is present in population databases (rs138373981, gnomAD 0.05%). 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: 525380). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 | RCV002533169 | SCV003760524 | uncertain significance | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.2159A>T (p.D720V) alteration is located in exon 16 (coding exon 15) of the DNAH8 gene. This alteration results from a A to T substitution at nucleotide position 2159, causing the aspartic acid (D) at amino acid position 720 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |