Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798559 | SCV000938180 | uncertain significance | Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B | 2022-06-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DCTN1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 644603). This variant is present in population databases (rs761331951, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 494 of the DCTN1 protein (p.Ala494Val). |
| Ambry Genetics | RCV002388461 | SCV002698858 | uncertain significance | Inborn genetic diseases | 2020-03-12 | criteria provided, single submitter | clinical testing | The p.A494V variant (also known as c.1481C>T), located in coding exon 14 of the DCTN1 gene, results from a C to T substitution at nucleotide position 1481. The alanine at codon 494 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |