Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144811 | SCV000191043 | likely benign | not specified | 2016-05-04 | 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 | RCV002055866 | SCV002435164 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003227673 | SCV003924123 | likely benign | Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 | 2021-03-30 | criteria provided, single submitter | clinical testing | MECP2 NM_004992.3 exon 4 p.Ala202Val (c.605C>T): This variant has not been reported in the literature but is present in 0.02% (5/19080) of South Asian alleles including 3 hemizygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/X-153296674-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:156668). This variant amino acid Valine (Val) is present in multiple species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003895016 | SCV004709315 | likely benign | MECP2-related condition | 2020-09-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |