Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003085312 | SCV003461195 | uncertain significance | Jeune thoracic dystrophy | 2022-04-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1043 of the DYNC2H1 protein (p.Arg1043Cys). 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. 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 | RCV004071731 | SCV004860395 | uncertain significance | Inborn genetic diseases | 2023-12-14 | criteria provided, single submitter | clinical testing | The c.3127C>T (p.R1043C) alteration is located in exon 22 (coding exon 22) of the DYNC2H1 gene. This alteration results from a C to T substitution at nucleotide position 3127, causing the arginine (R) at amino acid position 1043 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004818206 | SCV005071860 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |