ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)

dbSNP: rs1936640897
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220575 SCV001392573 pathogenic DiGeorge syndrome 2019-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro58Alafs*102) in the TBX1 gene. It is expected to result in an absent or disrupted protein product. 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. 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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