ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247640 SCV001421074 pathogenic DiGeorge Syndrome 2019-12-11 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing part of exon 3 of the TBX1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TBX1-related conditions. Loss-of-function variants in TBX1 are known to be pathogenic (PMID: 11239417, 11242049). For these reasons, this variant has been classified as Pathogenic.

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