Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001324245 | SCV001515191 | uncertain significance | Giant axonal neuropathy 1 | 2021-11-29 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with GAN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.316_318del, results in the deletion of 1 amino acid(s) of the GAN protein (p.Val106del), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV003325563 | SCV004031906 | likely pathogenic | not provided | 2023-08-27 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27023907) |