ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)

dbSNP: rs780815537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205234 SCV001376475 uncertain significance DiGeorge syndrome 2022-08-23 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 936438). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1392_1406del, results in the deletion of 5 amino acid(s) of the TBX1 protein (p.Ala472_Ala476del), but otherwise preserves the integrity of the reading frame. 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.

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