ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.529C>T (p.Gln177Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003024372 SCV003336145 pathogenic not provided 2022-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TONSL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln177*) 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).
PreventionGenetics, part of Exact Sciences RCV003395566 SCV004112718 likely pathogenic TONSL-related disorder 2023-04-02 criteria provided, single submitter clinical testing The TONSL c.529C>T variant is predicted to result in premature protein termination (p.Gln177*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in TONSL are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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