Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV005191292 | SCV005824431 | uncertain significance | Jeune thoracic dystrophy | 2025-01-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1407 of the DYNC2H1 protein (p.Gln1407Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 | RCV005326049 | SCV005998993 | uncertain significance | Inborn genetic diseases | 2025-02-15 | criteria provided, single submitter | clinical testing | The c.4220A>G (p.Q1407R) alteration is located in exon 27 (coding exon 27) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 4220, causing the glutamine (Q) at amino acid position 1407 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |