ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.1612C>T (p.Gln538Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

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