Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202669 | SCV001373792 | uncertain significance | Primary ciliary dyskinesia | 2022-03-04 | criteria provided, single submitter | clinical testing | 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: 934308). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2033 of the DNAH8 protein (p.Thr2033Ala). |
| Ambry Genetics | RCV003246746 | SCV003966261 | uncertain significance | Inborn genetic diseases | 2023-03-21 | criteria provided, single submitter | clinical testing | The c.6097A>G (p.T2033A) alteration is located in exon 43 (coding exon 42) of the DNAH8 gene. This alteration results from a A to G substitution at nucleotide position 6097, causing the threonine (T) at amino acid position 2033 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |