Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000815559 | SCV000956020 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-10-26 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 658690). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs775812913, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 344 of the DNAH1 protein (p.Glu344Lys). |
| Ambry Genetics | RCV003166345 | SCV003905296 | uncertain significance | Inborn genetic diseases | 2023-02-15 | criteria provided, single submitter | clinical testing | The c.1030G>A (p.E344K) alteration is located in exon 7 (coding exon 6) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 1030, causing the glutamic acid (E) at amino acid position 344 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |