Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV002467384 | SCV002762700 | pathogenic | Severe intellectual disability-progressive spastic diplegia syndrome | 2022-05-11 | criteria provided, single submitter | clinical testing | The CTNNB1 c.1612C>T (p.Gln538Ter) nonsense variant results in the substitution of glutamine at amino acid position 538 with a stop codon. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant has been reported in a heterozygous state in two individuals with neurodevelopmental disorders. In at least one of the individuals the variant occurred in a de novo state (Kharbanda et al. 2017; Kosaki et al. 2020). The c.1612C>T variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1612C>T (p.Gln538Ter) variant is classified as pathogenic for severe intellectual disability-progressive spastic diplegia syndrome. |