Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002472327 | SCV002769694 | benign | Rett syndrome | 2022-10-11 | reviewed by expert panel | curation | The allele frequency of the p.Gly206Ala variant in MECP2 (NM_004992.3) is 0.008% in the European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gly206Ala variant in MECP2 is observed in at least 2 unaffected individuals (PMID 17427193, internal database - GeneDx) (BS2). The p.Gly206Ala variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). In summary, the p.Gly206Ala variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong). |
Invitae | RCV000457783 | SCV000544615 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711300 | SCV000568377 | likely benign | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17427193, 26350204) |
Rett |
RCV000133178 | SCV000188176 | uncertain significance | Autism, susceptibility to, X-linked 3 | 2007-11-01 | no assertion criteria provided | curation |