ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.2071G>A (p.Val691Ile)

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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 RCV004785872 SCV005400966 uncertain significance Clark-Baraitser syndrome 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.2071G>A(p.Val691Ile) in TRIP12 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - possibly damaging, SIFT - tolerated and MutationTaster - disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid change p.Val691Ile in TRIP12 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Val at position 691 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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