Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000205311 | SCV000261059 | uncertain significance | Primary ciliary dyskinesia 16 | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 27 of the DNAL1 protein (p.Glu27Asp). This variant is present in population databases (rs774964160, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with DNAL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 220484). 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: "Benign"; 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. |
| Fulgent Genetics, |
RCV000205311 | SCV002803849 | uncertain significance | Primary ciliary dyskinesia 16 | 2022-05-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002517379 | SCV003731619 | uncertain significance | Inborn genetic diseases | 2022-01-19 | criteria provided, single submitter | clinical testing | The c.81G>C (p.E27D) alteration is located in exon 3 (coding exon 3) of the DNAL1 gene. This alteration results from a G to C substitution at nucleotide position 81, causing the glutamic acid (E) at amino acid position 27 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |