Submissions for variant NM_198253.3(TERT):c.969G>A (p.Pro323=)

gnomAD frequency: 0.00224  dbSNP: rs148549782

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151998	SCV000200557	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Pro323Pro in exon 2 of TERT: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.5% (21/4194) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148549782).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002516058	SCV000291884	benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000151998	SCV002068450	benign	not specified	2021-03-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256087	SCV002533165	likely benign	Dyskeratosis congenita	2021-06-24	criteria provided, single submitter	curation
Ambry Genetics	RCV002256087	SCV002690565	likely benign	Dyskeratosis congenita	2022-05-19	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315941	SCV004015604	benign	Acute myeloid leukemia	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003457647	SCV004185254	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TERT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003457647	SCV005305546	benign	not provided		criteria provided, single submitter	not provided