Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655803 | SCV000777734 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 283 of the DNAH1 protein (p.Pro283Ser). This variant is present in population databases (rs371481904, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 544606). 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. |
Ambry Genetics | RCV002534236 | SCV003706862 | uncertain significance | Inborn genetic diseases | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.847C>T (p.P283S) alteration is located in exon 6 (coding exon 5) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 847, causing the proline (P) at amino acid position 283 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |