Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002508196 | SCV002818070 | likely pathogenic | not provided | 2023-08-09 | criteria provided, single submitter | clinical testing | Previously reported as c.1230del52 in a female patient with a clinical diagnosis of Angelman syndrome (Watson et al., 2001); 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11283202) |
Invitae | RCV003638635 | SCV004525319 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro387Serfs*5) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 100 amino acid(s) of the MECP2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Angelman syndrome (PMID: 11283202). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MECP2 protein in which other variant(s) (p.Pro469Alafs*18) have been determined to be pathogenic (PMID: 32860008). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 189662). This variant is also known as 1230del52. |
OMIM | RCV000012605 | SCV000032840 | pathogenic | Atypical Rett syndrome | 2001-04-01 | no assertion criteria provided | literature only | |
Rett |
RCV000170146 | SCV000222474 | pathogenic | Angelman syndrome | 2002-04-10 | no assertion criteria provided | curation |