ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.3G>T (p.Met1Ile)

dbSNP: rs2147305526
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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 RCV001380283 SCV001578285 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2020-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been reported to affect GATA1 protein function (PMID: 20729467, 24952648). Disruption of the initiator codon has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 24453067, 24952648, 29146883). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the GATA1 mRNA. The next in-frame methionine is located at codon 84.

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