Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000723733 | SCV000113032 | uncertain significance | not provided | 2013-10-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000253795 | SCV000307316 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000723733 | SCV000619022 | uncertain significance | not provided | 2017-07-17 | criteria provided, single submitter | clinical testing | The N7795D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N7795D variant is observed in 4/6,396 (0.06%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. |
Invitae | RCV000698333 | SCV000826993 | uncertain significance | Nemaline myopathy 2 | 2019-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with aspartic acid at codon 7795 of the NEB protein (p.Asn7795Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs201189784, ExAC 0.06%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 95118). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV000698333 | SCV001456468 | uncertain significance | Nemaline myopathy 2 | 2020-01-17 | no assertion criteria provided | clinical testing |