Submissions for variant NM_198253.3(TERT):c.2565G>A (p.Ala855=)

dbSNP: rs769077049

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002533410	SCV000770772	likely benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004559310	SCV002741200	likely benign	Dyskeratosis congenita	2022-02-15	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.
CeGaT Center for Human Genetics Tuebingen	RCV003437372	SCV004153853	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TERT: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004735716	SCV005350977	likely benign	TERT-related disorder	2024-04-12	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).