Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002635795 | SCV002971628 | uncertain significance | Jeune thoracic dystrophy | 2021-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 3610 of the DYNC2H1 protein (p.Lys3610Thr). This variant is present in population databases (rs377671516, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYNC2H1 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. |
| Ambry Genetics | RCV003269222 | SCV003980040 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.10829A>C (p.K3610T) alteration is located in exon 73 (coding exon 73) of the DYNC2H1 gene. This alteration results from a A to C substitution at nucleotide position 10829, causing the lysine (K) at amino acid position 3610 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005050614 | SCV005680480 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2024-05-17 | criteria provided, single submitter | clinical testing |