ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2187C>T (p.Ile729=)

gnomAD frequency: 0.00002  dbSNP: rs200819224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002539221 SCV001018900 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817036 SCV002068997 uncertain significance not specified 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427216 SCV002730159 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-03-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003895373 SCV004710732 likely benign TERT-related condition 2022-05-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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