ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.874C>T (p.Arg292Cys)

gnomAD frequency: 0.00002  dbSNP: rs1013688033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257006 SCV002531322 uncertain significance Dyskeratosis congenita 2021-08-18 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV002257006 SCV004276735 uncertain significance Dyskeratosis congenita 2023-04-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 292 of the CTC1 protein (p.Arg292Cys). 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. ClinVar contains an entry for this variant (Variation ID: 1691974). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTC1 protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004750718 SCV005354399 uncertain significance CTC1-related disorder 2024-06-10 no assertion criteria provided clinical testing The CTC1 c.874C>T variant is predicted to result in the amino acid substitution p.Arg292Cys. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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