Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001208707 | SCV001380112 | uncertain significance | Severe neonatal-onset encephalopathy with microcephaly | 2021-09-02 | criteria provided, single submitter | clinical testing | This variant, c.1164_1172del, results in the deletion of 3 amino acid(s) of the MECP2 protein (p.Pro389_Pro391del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs267608604, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individual(s) with Rett syndrome. In addition, a different variant (c.1158_1166del) giving rise to the same protein effect observed here (p.Pro389_Pro391del) has been observed in an individual affected with Rett syndrome (PMID: 11055898, 19914908). ClinVar contains an entry for this variant (Variation ID: 143404). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Rett |
RCV000132930 | SCV000187911 | uncertain significance | Rett syndrome | 2002-04-10 | no assertion criteria provided | curation |