ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1573C>T (p.Arg525Ter)

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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 RCV005197397 SCV005831150 pathogenic not provided 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg525*) in the TONSL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TONSL are known to be pathogenic (PMID: 30773277). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TONSL-related conditions. For these reasons, this variant has been classified as Pathogenic.

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