ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.1051-1G>C

dbSNP: rs112417755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics dept., Datar Cancer Genetics Limited, India RCV000494924 SCV000579471 pathogenic Stage 5 chronic kidney disease 2016-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004730959 SCV005337481 likely pathogenic GATA3-related disorder 2024-04-05 no assertion criteria provided clinical testing The GATA3 c.1051-1G>C variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has not been reported in the literature or in a large population database indicating this variant is rare. Alternative variants at the same acceptor splice site have been observed in individuals with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome (1051-1G>T, Nesbit et al. 2004. PubMed ID: 14985365; c.1051-2A>G, Ali et al. 2007. PubMed ID: 17210674; c.1051-2A>G, Belge et al. 2017. PubMed ID: 27387476). Variants that disrupt the consensus splice acceptor site in GATA3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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