ClinVar Miner

Submissions for variant NM_005523.6(HOXA11):c.451C>A (p.Pro151Thr)

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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 RCV003448809 SCV004176562 uncertain significance Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 2023-02-14 criteria provided, single submitter clinical testing The missense c.451C>A (p.Pro151Thr) variant in the HOXA11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Proline at position 151 is changed to a Threonine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Pro151Thr in HOXA11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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