Submissions for variant NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003324424	SCV004029281	uncertain significance	not specified	2023-07-28	criteria provided, single submitter	clinical testing	Variant summary: TNRC6B c.3976_3984delCAGCAGCAG (p.Gln1326_Gln1328del) results in an in-frame deletion that is predicted to remove three amino acids from the encoded protein. The variant allele was found at a frequency of 7.6e-06 in 132068 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3976_3984delCAGCAGCAG in individuals affected with Global Developmental Delay With Speech And Behavioral Abnormalities and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989833	SCV004807024	uncertain significance	Global developmental delay with speech and behavioral abnormalities	2024-03-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003946491	SCV004757574	benign	TNRC6B-related disorder	2019-03-25	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).