ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.926_927del (p.Asn309fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816157 SCV000956651 pathogenic Aortic valve disease 2 2018-12-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TBX5 gene (p.Asn309Thrfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 210 amino acids of the TBX5 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in one individual with a heart murmur but no other features of TBX5-related disease (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the TBX5 protein. Other variant(s) that disrupt this region (p.Tyr368*, c.939delG ) have been determined to be pathogenic (Invitae, PMID:16917909). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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