ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3296-5C>T

gnomAD frequency: 0.00007  dbSNP: rs371015305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002540025 SCV001020213 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2025-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817041 SCV002066777 uncertain significance not specified 2021-01-27 criteria provided, single submitter clinical testing DNA sequence analysis of the TERT gene demonstrated a sequence change in intron 15, c.3296-5C>T. This change does not appear to have been previously described in patients with TERT-related disorders and has been described in the gnomAD with a low population frequency of 0.0069% (dbSNP rs371015305). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the TERT gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.

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