ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)

dbSNP: rs1565927747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690734 SCV000818434 pathogenic Aortic valve disease 2 2018-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln290*) in the TBX5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBX5-related disease. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). For these reasons, this variant has been classified as Pathogenic.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000782303 SCV000920822 pathogenic Holt-Oram syndrome 2018-06-14 no assertion criteria provided clinical testing

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