Submissions for variant NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

gnomAD frequency: 0.00018  dbSNP: rs199701877

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002530177	SCV000650789	likely benign	Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis	2024-12-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000987502	SCV001136808	likely benign	Interstitial lung disease 2	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001576510	SCV001803716	likely benign	not provided	2021-01-15	criteria provided, single submitter	clinical testing	Reported in an individual with DC and a positive family history, and in another individual with reported telomere disease in the published literature (Yamaguchi et al., 2015; Kapuria et al., 2019), however, additional clinical and segregation information was not included; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in 0.0276% (67/243010 alleles) in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32150348, 30523342, 30791107, 26329388)
Genetic Services Laboratory, University of Chicago	RCV001821580	SCV002068228	uncertain significance	not specified	2019-09-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255456	SCV002533164	likely benign	Dyskeratosis congenita	2021-12-15	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316717	SCV004015591	likely benign	Acute myeloid leukemia	2023-07-07	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV004760588	SCV005374376	likely benign	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	2024-09-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002255456	SCV005512325	benign	Dyskeratosis congenita	2024-08-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV005235410	SCV005881375	benign	Melanoma, cutaneous malignant, susceptibility to, 9	2025-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001576510	SCV002034968	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001576510	SCV002035146	likely benign	not provided		no assertion criteria provided	clinical testing