Submissions for variant NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)

dbSNP: rs774578030

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861446	SCV001001758	likely benign	DiGeorge syndrome	2023-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001786419	SCV002028834	uncertain significance	not provided	2024-10-01	criteria provided, single submitter	clinical testing	Reported in a patient with congenital heart defect in published literature (PMID: 33995479); In-frame duplication of 4 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33995479)
Ambry Genetics	RCV002381909	SCV002692336	likely benign	Cardiovascular phenotype	2021-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004742658	SCV005354183	likely benign	TBX1-related disorder	2024-07-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).