ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)

gnomAD frequency: 0.00006  dbSNP: rs202226502
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056058 SCV001220477 uncertain significance Dyskeratosis congenita 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1109 of the CTC1 protein (p.Asp1109Gly). This variant is present in population databases (rs202226502, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of CTC1-related conditions (PMID: 32483926). ClinVar contains an entry for this variant (Variation ID: 851627). 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.
Sema4, Sema4 RCV001056058 SCV002531301 uncertain significance Dyskeratosis congenita 2021-10-19 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005021387 SCV005652870 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2024-01-24 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572997 SCV001798242 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001572997 SCV001928123 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572997 SCV001971282 likely benign not provided no assertion criteria provided clinical testing

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