ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577230 SCV005061150 uncertain significance Congenital dyserythropoietic anemia type 4 criteria provided, single submitter clinical testing The observed missense variant c.587C>T (p.Pro196Leu) in KLF1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro196Leu variant is absent in gnomAD Exomes databases. This variant has not been submitted to the ClinVar database. The amino acid change p.Pro196Leu in KLF1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence suggests that this missense change will disrupt protein structure and function. The amino acid Pro at position 196 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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