ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.220+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002284344 SCV002573770 likely pathogenic not provided 2021-10-19 criteria provided, single submitter clinical testing PM2, PVS1_strong
Labcorp Genetics (formerly Invitae), Labcorp RCV005213647 SCV005857094 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2025-01-15 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. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with acute myeloid leukemia, clinical features of GATA1-related conditions, and/or macrocytic anemia (PMID: 31606922, 35328001). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1705970). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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