ClinVar Miner

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

gnomAD frequency: 0.00224  dbSNP: rs148549782
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Total submissions: 7
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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).
Invitae 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 RCV002371997 SCV002690565 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-05-19 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.
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

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