ClinVar Miner

Submissions for variant NM_001012759.3(CTU2):c.881C>A (p.Ser294Ter)

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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 RCV002970639 SCV003281510 pathogenic not provided 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser294*) in the CTU2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTU2 are known to be pathogenic (PMID: 31301155, 34356170). This variant is present in population databases (rs201111272, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with CTU2-related conditions (PMID: 34356170). ClinVar contains an entry for this variant (Variation ID: 2067774). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002970639 SCV005377592 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Observed in the heterozygous state along with a second variant in the CTU2 gene in a patient with intellectual disability, abnormal tone, thinning corpus callosum, growth restriction, and dysmorphic features; however, segregation information was not provided (PMID: 34356170); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34356170)

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