ClinVar Miner

Submissions for variant NM_001386135.1(AFF3):c.127G>C (p.Asp43His)

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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 RCV004723696 SCV005329385 uncertain significance KINSSHIP syndrome 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.127G>C (p.Asp43His) in AFF3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp43His variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen -Probably damaging, SIFT - Damaging and Mutation Taster - Polymorphism) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Asp43His in AFF3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asp at position 43 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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