ClinVar Miner

Submissions for variant NM_005373.3(MPL):c.1719G>C (p.Lys573Asn)

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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 RCV003340910 SCV004047750 uncertain significance Thrombocythemia 2 criteria provided, single submitter clinical testing The missense variant c.1719G>C (p.Lys573Asn) in MPL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys573Asn variant is reported with allele frequency 0.0008% in gnomAD exomes and novel in 1000 Genomes. The amino acid Lys at position 573 is changed to a Asn changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys573Asn in MPL is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance .

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