ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) (rs104894809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382887 SCV001581843 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2020-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 216 of the GATA1 protein (p.Arg216Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with thrombocytopenia (PMID: 12200364, 19172521, 14691578, 12200364, 17209061). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 10428). This variant has been reported to affect GATA1 protein function (PMID: 23704091, 12200364). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011173 SCV000031400 pathogenic Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis 2007-10-01 no assertion criteria provided literature only
GeneReviews RCV001542263 SCV000189416 pathogenic Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 2017-05-11 no assertion criteria provided literature only Also reported in one family with "gray platelet syndrome".

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