ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) (rs1557020021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552766 SCV000640017 pathogenic Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Diamond-Blackfan anemia 2017-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 30 (p.Ser30*) of the GATA1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a GATA1-related disease. Although this variant is expected to create a premature translational stop signal at codon 30 of the GATA1 protein, studies have shown that translation can initiate at codon 84, resulting in the formation of a shorter protein (GATA1s) that lacks the transactivation domain within the first 83 amino acids. Variants in GATA1 (c. 332G>C, c.220+1delG) that result in the expression of the GATA1s isoform, through skipping of the initiating methionine-containing exon, have been reported in individuals with Diamond Blackfan anemia (PMID: 16783379, 22706301, 24766296). For these reasons, this variant has been classified as Pathogenic.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV001293757 SCV001480510 pathogenic Acute megakaryoblastic leukemia in down syndrome 2020-09-01 criteria provided, single submitter clinical testing

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