Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000470483 | SCV000548839 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2023-08-16 | 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. 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 DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 408981). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2118 of the DYNC1H1 protein (p.Arg2118Gln). |
| Ambry Genetics | RCV003243138 | SCV003964406 | uncertain significance | Inborn genetic diseases | 2023-04-03 | criteria provided, single submitter | clinical testing | The c.6353G>A (p.R2118Q) alteration is located in exon 31 (coding exon 31) of the DYNC1H1 gene. This alteration results from a G to A substitution at nucleotide position 6353, causing the arginine (R) at amino acid position 2118 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |