Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000815472 | SCV000955927 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 537 of the DNAH1 protein (p.Ser537Asn). This variant is present in population databases (rs201302159, gnomAD 0.2%). 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: 658618). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Revvity Omics, |
RCV003145185 | SCV003831685 | uncertain significance | not provided | 2021-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003145185 | SCV005078644 | uncertain significance | not provided | 2024-05-23 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in a patient with year-round wet cough, dyspnea, persistent hypoxemia, wheezing, and crackles (PMID: 34277212); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35626283, 34277212) |