Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821799 | SCV000962571 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2700 of the DNAH1 protein (p.Ala2700Gly). This variant is present in population databases (rs776888791, gnomAD 0.0009%). 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: 663840). 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 | RCV002537514 | SCV003733524 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The c.8099C>G (p.A2700G) alteration is located in exon 51 (coding exon 50) of the DNAH1 gene. This alteration results from a C to G substitution at nucleotide position 8099, causing the alanine (A) at amino acid position 2700 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |