ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter)

dbSNP: rs1555223259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV000590978 SCV000680455 pathogenic Atrial septal defect, ostium secundum type; Mitral regurgitation; Ventricular septal defect 2017-09-08 criteria provided, single submitter research This variant was identified in an Australian family of Caucasian origin. This novel truncating variant (with respect to ExAC) segregates with disease in 6 affected individuals across 3 generations. These patients all exhibit congenital heart disease, predominantly in the form of cardiac septal defects but also with electrical conduction anomalies of the heart.

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