Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000629349 | SCV000750285 | uncertain significance | Primary ciliary dyskinesia | 2019-10-19 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 2948 of the DNAH8 protein (p.Pro2948Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV002528830 | SCV003612163 | uncertain significance | Inborn genetic diseases | 2022-03-16 | criteria provided, single submitter | clinical testing | The c.8842C>T (p.P2948S) alteration is located in exon 60 (coding exon 59) of the DNAH8 gene. This alteration results from a C to T substitution at nucleotide position 8842, causing the proline (P) at amino acid position 2948 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |