ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter)

dbSNP: rs1575419803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001003473 SCV001161763 pathogenic Clark-Baraitser syndrome 2019-01-09 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2]; A de novo mosaic variant [PS2] within the TRIP12 gene was detected and confirmed by sanger sequencing. Most reported pathogenic variants in the gene are de novo nonsense or gene deletions, suggesting haploinsufficiency as the mechanism of disease. This variant leads to a predicted null or shortened protein (stop codon at amino acid 562 of 6123) and is absent from large-scale population databases, including gnomAD [PVS1, PM2].

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