ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003505561 SCV004330491 pathogenic Achondrogenesis, type IA 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg542Glufs*6) in the TRIP11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIP11 are known to be pathogenic (PMID: 20089971, 23956106). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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