ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)

dbSNP: rs2145835194
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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 RCV001908785 SCV002172400 pathogenic DiGeorge syndrome 2021-04-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of DiGeorge/velocardiofacial syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu258Profs*60) in the TBX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBX1 are known to be pathogenic (PMID: 25860641, 29500247).

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