ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2091G>A (p.Val697=)

gnomAD frequency: 0.00002  dbSNP: rs377436842
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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 RCV002525702 SCV000561761 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559113 SCV002725037 likely benign Dyskeratosis congenita 2022-02-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV004711130 SCV005259070 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541502 SCV004784675 likely benign TERT-related disorder 2023-03-30 no assertion criteria provided 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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