Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260609 | SCV002540674 | likely benign | Rett syndrome | 2022-05-24 | reviewed by expert panel | curation | Computational analysis prediction tools suggest that the p.Val312= variant in MECP2 (NM_004992) does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The silent p.Val312= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Val312= variant is observed in at least 1 unaffected individual (GeneDx-internal database) (BS2_Supporting). The p.Val312= variant in MECP2 is absent from gnomAD (PM2_Supporting). In summary, the p.Val312= variant meets the criteria to be classified as Likely Benign. Although there are both pathogenic and benign types of evidence for this variant, the pathogenic evidence is not considered inconsistent with the final classification. ACMG/AMP criteria applied, as specified by the ClinGen Rett/Angelman-like expert panel: (BP4, BP7, BS2_Supporting, PM2_Supporting). |
Eurofins Ntd Llc |
RCV000723612 | SCV000113127 | uncertain significance | not provided | 2013-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081219 | SCV000723152 | likely benign | not specified | 2017-10-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV003638616 | SCV004534661 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-05-01 | criteria provided, single submitter | clinical testing |