ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.604G>A (p.Ala202Thr) (rs121918661)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459343 SCV000551526 likely benign Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000489117 SCV000577668 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15885610, 23538340, 23716176, 15814878, 30791107, 30426156, 29416752, 30523342, 20858879, 32089214, 22424236, 23901009)
Genetic Services Laboratory, University of Chicago RCV000604322 SCV000597471 uncertain significance not specified 2019-10-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000604322 SCV000711360 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing The p.Ala202Thr (NM_198253.2 c.604G>A) variant in TERT has been reported in hete rozygosity in 2 individuals with clinical features of Dyskeratosis congenita an d related disorders (Yamaguchi 2005; ClinVar Variation ID#12729). It was also id entified in another family and did not segregate with disease ( Vulliamy 2005). This variant has been identified in 0.205% (13/6,346) of Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 21918661). In vitro functional studies reportedly suggest that the p.Ala202Thr v ariant may impact protein function (Zaug 2013 and Yamaguchi 2005); however, thes e types of assays may not accurately represent biological function. The amino ac id position is not conserved in mammals and most computational predictions progr ams do not suggest an impact. In summary, the clinical significance of the p.Ala 202Thr variant is uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000489117 SCV000857418 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000758251 SCV000886891 likely benign Dyskeratosis congenita, autosomal dominant, 2 2019-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032398 SCV001318822 uncertain significance Aplastic anemia 2018-01-25 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000758251 SCV001318823 uncertain significance Dyskeratosis congenita, autosomal dominant, 2 2018-01-25 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000013566 SCV001318824 benign Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2018-01-25 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Institute of Human Genetics, University of Leipzig Medical Center RCV000758251 SCV001429338 uncertain significance Dyskeratosis congenita, autosomal dominant, 2 2020-01-24 criteria provided, single submitter clinical testing
OMIM RCV000013566 SCV000033813 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2005-04-07 no assertion criteria provided literature only
GeneReviews RCV000032398 SCV000056054 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000489117 SCV001744189 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000489117 SCV001797328 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000489117 SCV001808998 uncertain significance not provided no assertion criteria provided clinical testing

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