Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095731 | SCV001251572 | likely pathogenic | CTNNB1-related syndromic intellectual disability | 2020-01-22 | criteria provided, single submitter | clinical testing | The CTNNB1 c.1118delC (p.Pro373GlnfsTer42) variant results in a frameshift and is predicted to result in an absent or prematurely truncated protein product. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database, in a region of good sequence coverage so it is presumed to be rare. Based on the known impact of null variants in the CTNNB1 gene and its rarity, the p.Pro373GlnfsTer42 variant is classified as likely pathogenic for CTNNB1-related syndromic intellectual disability. |