Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000690577 | SCV000818267 | uncertain significance | Primary ciliary dyskinesia 28 | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 906 of the SPAG1 protein (p.Asp906Gly). This variant is present in population databases (rs199727770, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 569851). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV002424615 | SCV002743560 | uncertain significance | Primary ciliary dyskinesia | 2022-01-26 | criteria provided, single submitter | clinical testing | The c.2717A>G (p.D906G) alteration is located in exon 19 (coding exon 18) of the SPAG1 gene. This alteration results from a A to G substitution at nucleotide position 2717, causing the aspartic acid (D) at amino acid position 906 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |