ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)

dbSNP: rs1557020021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232272 SCV000640017 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2020-08-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser30*) 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 conditions. ClinVar contains an entry for this variant (Variation ID: 465134). Loss-of-function variants in GATA1 are known to be pathogenic (PMID: 16783379, 22706301, 23704091, 24453067). 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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