ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1983G>A (p.Leu661=)

gnomAD frequency: 0.00010  dbSNP: rs375454175
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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 RCV002530515 SCV000770748 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256450 SCV002533120 likely benign Dyskeratosis congenita 2021-10-14 criteria provided, single submitter curation
Ambry Genetics RCV002256450 SCV002718513 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.
PreventionGenetics, part of Exact Sciences RCV004544886 SCV004780095 likely benign TERT-related disorder 2019-08-22 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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