ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) (rs200919310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520835 SCV000619947 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing The R1178X variant in the CTC1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R1178X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1178X as a variant of uncertain significance.
Invitae RCV001204312 SCV001375512 uncertain significance Dyskeratosis congenita 2019-08-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CTC1 gene (p.Arg1178*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the CTC1 protein. This variant is present in population databases (rs200919310, ExAC 0.006%). This variant has not been reported in the literature in individuals with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 451273). This variant disrupts the C-terminus of the CTC1 protein. Other variant(s) that disrupt this region (p.Arg1195*) have been observed in individuals with CTC1-related conditions (PMID: 22387016). This suggests that this may be a clinically significant region of the protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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