Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001262717 | SCV002540675 | pathogenic | Rett syndrome | 2022-05-10 | reviewed by expert panel | curation | The p.Val380fs variant in MECP2 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a gene where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the gene is pathogenic (PVS1). The p.Val380fs variant has been observed in at least 2 individuals with neurodevelopmental phenotypes (GeneDx internal cases) (PS4_Supporting). The p.Val380fs variant in MECP2 is absent from gnomAD (PM2_Supporting). In summary the p.Val380fs variant in MECP2 is classified as Pathogenic for Rett Syndrome based on the ACMG/AMP criteria (PVS1, PS4_Supporting, PM2_Supporting). |
Gene |
RCV000132871 | SCV001168944 | pathogenic | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Identified in a female with mild intellectual disability/developmental delay in published literature (Jarvela et al., 2021); This variant is associated with the following publications: (PMID: 21982064, 19914908, 20151026, 17387578, 17089071, 11453972, 33710394) |
Center for Statistical Genetics, |
RCV001261387 | SCV001438297 | pathogenic | Intellectual disability | 2020-10-16 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV001262717 | SCV001440688 | likely benign | Rett syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386238 | SCV001586379 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000132871 | SCV000187851 | not provided | not provided | no assertion provided | not provided |