ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)

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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 RCV003530367 SCV004245455 pathogenic Dyskeratosis congenita 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp299*) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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