Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000259340 | SCV000343293 | uncertain significance | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001859691 | SCV002122251 | uncertain significance | Nemaline myopathy 2 | 2021-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2474 of the NEB protein (p.Asn2474Ser). This variant is present in population databases (rs776901478, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 289022). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Revvity Omics, |
RCV000259340 | SCV003810165 | uncertain significance | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing |