ClinVar Miner

Submissions for variant NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) (rs145205240)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545383 SCV001764707 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing Reported in a patient with bicuspid aortic valve with aortic root dilatation (Gidauskas et al., 2017) and in a patient with thoracic aortic aneurysm/dissection (TAAD) (Renner et al., 2019); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 180368; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30675029, 28387797)
Blueprint Genetics RCV000157241 SCV000206968 uncertain significance Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 2014-04-08 no assertion criteria provided clinical testing

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