ClinVar Miner

Submissions for variant NM_001321120.2(TBX4):c.1115del (p.Pro372fs)

dbSNP: rs754897911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV000664179 SCV000784738 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Wendy Chung Laboratory, Columbia University Medical Center RCV001829825 SCV002097198 likely pathogenic Pulmonary hypertension, primary, 1 2019-11-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002530597 SCV003483322 pathogenic not provided 2022-09-22 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with pulmonary arterial hypertension (PMID: 30029678, 30578397, 33066286). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro371Leufs*8) in the TBX4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 175 amino acid(s) of the TBX4 protein. ClinVar contains an entry for this variant (Variation ID: 548694). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TBX4 protein in which other variant(s) (p.Arg389Glnfs*30) have been determined to be pathogenic (PMID: 15106123). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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