ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.2293G>A (p.Val765Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004784932 SCV005397195 uncertain significance Clark-Baraitser syndrome 2022-11-14 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at coding position 2149 of the TRIP12 gene that results in a valine to isoleucine amino acid change at residue 717 of the TRIP12 protein. This variant has not been reported in databases of clinically relevant variants or observed in the literature in individuals with TRIP12-related disease, to our knowledge. This variant is present in the gnomAD population database (26 of 282064 alleles or 0.0092%). Bioinformatic tools predict that this variant would be tolerated; however, the Val717 residue is highly conserved across the vertebrate species examined. Functiol studies testing the effect of this variant have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this to be a variant of uncertain significance. ACMG Criteria: BP4

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