ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.21del (p.Ser8fs)

dbSNP: rs1557020001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232271 SCV000640016 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2017-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser8Profs*129) in the GATA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA1-related disease. This variant is expected to result in a truncated GATA1 protein that lacks the N-terminal zinc-finger (residues 198-233) and C-terminal zinc-finger (residues 254-286). These domains mediate not only DNA binding, but also the majority of protein-protein interactions required for the proper transcriptional regulatory function of the GATA1 protein (PMID: 11566888, 16095949, 8628290, 15920471, 24255919). Several missense variants that result in disrupted function of the GATA1 protein have been reported in individuals affected with GATA1-related disease, indicating that loss-of-function variants in GATA1 are pathogenic (PMID: 23704091).

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