ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn)

dbSNP: rs2154255362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001374614 SCV001571460 uncertain significance Clark-Baraitser syndrome 2021-01-01 criteria provided, single submitter research The TRIP12 c.4847C>A (p.Thr1616Asn) missense variant results in a threonine to asparagine substitution in exon 33 of 42 of the encoded protein. To our knowledge, this variant has not been previously reported in affected individuals in the literature. This is a rare variant in the human population and is absent in the Genome Aggregation Database (gnomAD). Computational prediction tools and conservation analysis provide conflicting expectations regarding an impact to protein function. Given the available evidence, this variant is classified as a variant of uncertain significance.

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