ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.220+1G>C

dbSNP: rs1569499366
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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 RCV002232859 SCV000815068 likely pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2018-05-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the GATA1 gene. It is expected to disrupt RNA splicing and likely results 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GATA1 are known to be pathogenic (PMID: 16783379, 22706301, 23704091, 24453067). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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