Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818044 | SCV000958637 | uncertain significance | Primary ciliary dyskinesia | 2022-03-13 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 3807 of the DNAH8 protein (p.Asn3807Asp). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 660774). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is present in population databases (rs368737192, gnomAD 0.002%). |
Ambry Genetics | RCV002537430 | SCV003555322 | uncertain significance | Inborn genetic diseases | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.11419A>G (p.N3807D) alteration is located in exon 76 (coding exon 75) of the DNAH8 gene. This alteration results from a A to G substitution at nucleotide position 11419, causing the asparagine (N) at amino acid position 3807 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |