Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001870322 | SCV002127327 | uncertain significance | Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B | 2021-04-23 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DCTN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 391 of the DCTN1 protein (p.Leu391Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. |
| Ambry Genetics | RCV004039600 | SCV004854774 | uncertain significance | Inborn genetic diseases | 2023-10-25 | criteria provided, single submitter | clinical testing | The c.1171C>A (p.L391I) alteration is located in exon 12 (coding exon 12) of the DCTN1 gene. This alteration results from a C to A substitution at nucleotide position 1171, causing the leucine (L) at amino acid position 391 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |