ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])

dbSNP: rs1288296547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370493 SCV001566995 uncertain significance DiGeorge syndrome 2024-12-18 criteria provided, single submitter clinical testing This variant, c.1135_1143del, results in the deletion of 3 amino acid(s) of the TBX1 protein (p.Ala379_Gly381del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individual(s) with ventricular septal defects (PMID: 15060116). ClinVar contains an entry for this variant (Variation ID: 1060987). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002488163 SCV002794090 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2021-08-21 criteria provided, single submitter clinical testing

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