ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)

dbSNP: rs1602219139
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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 RCV000801573 SCV000941354 pathogenic Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2018-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr63Cysfs*12) 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 disease. 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. 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.

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