ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.913+1G>A

dbSNP: rs483352840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448264 SCV004176431 likely pathogenic Congenital dyserythropoietic anemia type 4 2023-03-01 criteria provided, single submitter clinical testing The splice donor variant c.913+1G>A in the KLF1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.913+1G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely_pathogenic with a status of no assertion criteria provided. The variant affects the GT donor splice site downstream of exon 2. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Department of Medical Genetics, Oslo University Hospital RCV000087159 SCV000120021 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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