Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001225878 | SCV001398172 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2019-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 2878 of the DNAH1 protein (p.Thr2878Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs781146284, ExAC 0.03%). This variant has not been reported in the literature in individuals with DNAH1-related conditions. 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: "Probably Damaging"; 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. |
| Ambry Genetics | RCV002562606 | SCV003663480 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.8633C>T (p.T2878M) alteration is located in exon 55 (coding exon 54) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 8633, causing the threonine (T) at amino acid position 2878 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |