ClinVar Miner

Submissions for variant NM_003321.5(TUFM):c.722dup (p.Leu242fs)

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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 RCV005127975 SCV005748671 pathogenic not provided 2024-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu242Alafs*53) in the TUFM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TUFM are known to be pathogenic (PMID: 17160893, 19524667). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TUFM-related conditions. For these reasons, this variant has been classified as Pathogenic.

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