ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)

dbSNP: rs2042881907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001095645 SCV001251396 likely pathogenic Clark-Baraitser syndrome 2019-10-23 criteria provided, single submitter clinical testing
GeneDx RCV004761932 SCV005371994 pathogenic not provided 2024-04-03 criteria provided, single submitter clinical testing Identified as a de novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx and in the published literature (PMID: 31785789), and as an apparently de novo variant in a patient in the published literature with clinical features of TRIP12-related neurodevelopmental disorder (PMID: 36747006); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33057194, 35982159, 31785789, 36747006, 36430143)

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