Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168707 | SCV000191000 | uncertain significance | not specified | 2017-04-04 | criteria provided, single submitter | clinical testing | The P419S variant has been reported in a female patient diagnosed with Rett syndrome and her unaffected mother (Gauthier et al., 2005). The P419S variant is observed in 1/9303 (0.01%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P419S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Genetic Services Laboratory, |
RCV000168707 | SCV000247946 | uncertain significance | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088911 | SCV000544612 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000766081 | SCV000897556 | uncertain significance | Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000456515 | SCV001150511 | uncertain significance | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing |