ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.975C>T (p.Tyr325=)

gnomAD frequency: 0.00001  dbSNP: rs774784101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002539959 SCV001012658 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381979 SCV002693933 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-02-15 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 RCV003892151 SCV004716514 likely benign TERT-related condition 2022-04-29 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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