ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)

gnomAD frequency: 0.00006  dbSNP: rs759152295
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062517 SCV001227324 uncertain significance Dyskeratosis congenita 2023-10-23 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 589 of the CTC1 protein (p.Arg589Cys). This variant is present in population databases (rs759152295, gnomAD 0.01%). 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: 856944). 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 with a negative predictive value of 80%. 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.
GeneDx RCV001760029 SCV001998900 uncertain significance not provided 2019-09-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001807379 SCV002055600 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001062517 SCV002531267 uncertain significance Dyskeratosis congenita 2021-08-24 criteria provided, single submitter curation
Ambry Genetics RCV002555812 SCV003555943 uncertain significance Inborn genetic diseases 2022-11-22 criteria provided, single submitter clinical testing The c.1765C>T (p.R589C) alteration is located in exon 10 (coding exon 10) of the CTC1 gene. This alteration results from a C to T substitution at nucleotide position 1765, causing the arginine (R) at amino acid position 589 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001760029 SCV004224311 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing BP4

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