Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002022590 | SCV002287875 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1439 of the DNAH1 protein (p.Ala1439Thr). This variant is present in population databases (rs768831672, gnomAD 0.02%). 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: 1502952). 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 | RCV004046057 | SCV003657576 | uncertain significance | not specified | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.4315G>A (p.A1439T) alteration is located in exon 26 (coding exon 25) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 4315, causing the alanine (A) at amino acid position 1439 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |