ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)

gnomAD frequency: 0.00001  dbSNP: rs1169567839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268612 SCV001447657 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001880169 SCV002194698 pathogenic Dyskeratosis congenita 2023-01-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg224*) 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 present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 987292). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
PreventionGenetics, part of Exact Sciences RCV003898254 SCV004710246 pathogenic CTC1-related disorder 2023-11-10 no assertion criteria provided clinical testing The CTC1 c.670C>T variant is predicted to result in premature protein termination (p.Arg224*). To our knowledge, this variant has not been reported in the literature in a patient with a CTC1-related disorder. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-8140815-G-A). Nonsense variants in CTC1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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