ClinVar Miner

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

gnomAD frequency: 0.00021  dbSNP: rs145205240
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Total submissions: 4
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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)
Labcorp Genetics (formerly Invitae), Labcorp RCV001545383 SCV002312015 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 387 of the GATA5 protein (p.Arg387Cys). This variant is present in population databases (rs145205240, gnomAD 0.02%). This missense change has been observed in individual(s) with bicuspid aortic valve and in individual(s) with thoracic aortic aneurysm/dissection (PMID: 28387797, 30675029). ClinVar contains an entry for this variant (Variation ID: 180368). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001545383 SCV005410110 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing
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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