Submissions for variant NM_198253.3(TERT):c.3186C>T (p.Ala1062=)

gnomAD frequency: 0.00011  dbSNP: rs201067706

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002530160	SCV000650769	likely benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821578	SCV002064939	likely benign	not specified	2017-08-09	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257827	SCV002533149	likely benign	Dyskeratosis congenita	2021-11-08	criteria provided, single submitter	curation
Ambry Genetics	RCV002324022	SCV002609235	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	RCV003925673	SCV004746706	likely benign	TERT-related condition	2019-09-13	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).