Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063729 | SCV001228589 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2022-08-15 | criteria provided, single submitter | clinical testing | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 857955). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This variant is present in population databases (rs780039638, gnomAD 0.008%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2451 of the DNAH1 protein (p.Leu2451Phe). |
| Ambry Genetics | RCV002555827 | SCV003595578 | uncertain significance | Inborn genetic diseases | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.7351C>T (p.L2451F) alteration is located in exon 47 (coding exon 46) of the DNAH1 gene. This alteration results from a C to T substitution at nucleotide position 7351, causing the leucine (L) at amino acid position 2451 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |