Submissions for variant NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003402772	SCV004121375	pathogenic	CTNNB1-related disorder	2023-01-09	criteria provided, single submitter	clinical testing	The CTNNB1 c.865_869del5 variant is predicted to result in a frameshift and premature protein termination (p.Thr289Cysfs*2). This variant was reported as de novo in an individual with Intellectual disability with additional phenotypic features (Patient P9 in Scocchia et al. 2019. PubMed ID: 30792901). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CTNNB1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Illumina Laboratory Services, Illumina	RCV003985117	SCV004801523	pathogenic	Severe intellectual disability-progressive spastic diplegia syndrome	2017-04-28	criteria provided, single submitter	clinical testing	The CTNNB1 c.865_869delACAAA (p.Thr289CysfsTer2) variant has not been reported in the literature. This variant has not been reported in the Genome Aggregation Database, in a region with good sequence coverage, suggesting that it is rare in the general population. The variant was identified in a de novo state. Based on the available evidence, the c.865_869delACAAA (p.Thr289CysfsTer2) variant is classified as pathogenic for CTNNB1-related syndromic intellectual disability.