ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.958del (p.Ile320fs) (rs878853750)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227368 SCV000283865 pathogenic Aortic valve disease 2 2016-01-27 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 8 of the TBX5 mRNA (c.958delA), causing a frameshift at codon 320. This creates a premature translational stop signal (p.Ile320Phefs*74) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in TBX5 are known to be pathogenic (PMID: 16183809, 16917909). For these reasons, this variant has been classified as Pathogenic.

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