ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)

gnomAD frequency: 0.00001  dbSNP: rs753665719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071962 SCV001237301 uncertain significance Dyskeratosis congenita 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 777 of the CTC1 protein (p.Glu777Gln). This variant is present in population databases (rs753665719, 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: 864713). 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.
Genetic Services Laboratory, University of Chicago RCV001815022 SCV002061939 uncertain significance not specified 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555913 SCV003626061 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The c.2329G>C (p.E777Q) alteration is located in exon 13 (coding exon 13) of the CTC1 gene. This alteration results from a G to C substitution at nucleotide position 2329, causing the glutamic acid (E) at amino acid position 777 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029670 SCV005652890 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2024-03-17 criteria provided, single submitter clinical testing

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