Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000283326 | SCV000416869 | uncertain significance | Nemaline Myopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000814313 | SCV000954716 | uncertain significance | Nemaline myopathy 2 | 2018-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 6738 of the NEB protein (p.Asp6738Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs201337732, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 331436). 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: "Not Available"; 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. |