ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.456del (p.Val153fs) (rs1057520136)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443799 SCV000511296 pathogenic not provided 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV000460311 SCV000552107 pathogenic Aortic valve disease 2 2017-02-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 5 of the TBX5 mRNA (c.456delC), causing a frameshift at codon 153. This creates a premature translational stop signal (p.Val153Serfs*21) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBX5 are known to be pathogenic (PMID: 16917909, 16183809). This particular variant has been reported in the literature in an individual with Holt-Oram syndrome (PMID: 12789647). For these reasons, this variant has been classified as Pathogenic.

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