ClinVar Miner

Submissions for variant NM_003235.5(TG):c.3612dup (p.Gly1205fs)

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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 RCV003550390 SCV004262820 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1205Argfs*7) in the TG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TG are known to be pathogenic (PMID: 19837936, 23164529). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TG-related conditions. For these reasons, this variant has been classified as Pathogenic.

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