ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.58G>A

gnomAD frequency: 0.01733  dbSNP: rs113487931
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229649 SCV000291920 benign Dyskeratosis congenita, autosomal dominant 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000421480 SCV000514876 benign not specified 2016-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001699177 SCV000605357 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000421480 SCV000711359 benign not specified 2017-12-26 criteria provided, single submitter clinical testing c.58G>A in TERC: This variant is not expected to have clinical significance beca use it has been identified in 5.6% (1269/22484) of African chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs113 4787931). In addition, in vitro functional assays of telomerase activity show no loss of function with this variant (Ly 2003, Marrone 2004). ACMG/AMP Criteria a pplied: BA1, BS3.
Fulgent Genetics, Fulgent Genetics RCV002490336 SCV002797350 likely benign Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2022-04-08 criteria provided, single submitter clinical testing
OMIM RCV000007747 SCV000027948 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2002-06-22 no assertion criteria provided literature only
GeneReviews RCV000032580 SCV000056253 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699177 SCV001926646 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699177 SCV001956296 likely benign not provided no assertion criteria provided clinical testing

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