ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)

dbSNP: rs1569018211
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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 RCV001313053 SCV001503529 uncertain significance DiGeorge syndrome 2024-10-15 criteria provided, single submitter clinical testing This variant, c.146_202del, results in the deletion of 19 amino acid(s) of the TBX1 protein (p.Arg49_Pro67del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with non-syndromic tetralogy of Fallot (PMID: 20937753). This variant is also known as c.129_185del57 (p.Pro43_Pro61del). ClinVar contains an entry for this variant (Variation ID: 1014332). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects TBX1 function (PMID: 20937753). 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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