ClinVar Miner

Submissions for variant NM_005992.1(TBX1):c.1009+500_1009+502delinsAGGGCCGGCGGC (rs1555896709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621456 SCV000735731 uncertain significance Cardiovascular phenotype 2017-02-08 criteria provided, single submitter clinical testing The c.1123_1125delGGGins12 variant, located in coding exon 8 of the TBX1 gene, results from an in-frame deletion of GGG at nucleotide positions 1123 to 1125 and insertion of twelve nucleotides (AGGGCCGGCGGC). This results in the insertion of three amino acid residues, arginine, alanine and glycine (p.P374_G375insRAG). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000798611 SCV000938235 uncertain significance DiGeorge Syndrome 2018-11-30 criteria provided, single submitter clinical testing This variant, c.1123_1125delinsAGGGCCGGCGGC, is a complex sequence change that results in the insertion of 3 amino acids of the TBX1 protein (p.Pro374_Gly375insArgAlaGly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 518617). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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