ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1849C>T (p.Leu617=)

gnomAD frequency: 0.00083  dbSNP: rs140951453
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244189 SCV000316908 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336462 SCV000452682 benign Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000372475 SCV000452683 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000287182 SCV000452684 uncertain significance Aplastic anemia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002518668 SCV000561778 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000244189 SCV000597451 benign not specified 2018-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001580477 SCV001817838 likely benign not provided 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001580477 SCV001961863 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TERT: BP4, BP7
Ambry Genetics RCV004558609 SCV002715152 benign Dyskeratosis congenita 2020-12-07 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 RCV003316456 SCV004015586 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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