Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000644464 | SCV000766162 | uncertain significance | Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B | 2019-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1067*) in the DCTN1 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DCTN1 cause disease. This variant has not been reported in the literature in individuals with DCTN1-related disease. This variant is present in population databases (rs376996779, ExAC 0.003%). |
| Ambry Genetics | RCV002325268 | SCV002610814 | uncertain significance | Inborn genetic diseases | 2020-12-02 | criteria provided, single submitter | clinical testing | The p.E1067* variant (also known as c.3199G>T), located in coding exon 27 of the DCTN1 gene, results from a G to T substitution at nucleotide position 3199. This changes the amino acid from a glutamic acid to a stop codon within coding exon 27. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of DCTN1 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |